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dbVar

Database of genomic structural variation

nsv6314464

Organism: Homo sapiens

Study:nstd102 (Clinical Structural Variants)
Variant Type:complex chromosomal rearrangement
Method Type:Multiple
Submitted on:GRCh37

Variant Calls:3
Validation:Not tested
Clinical Assertions: Yes
Region Size:1

Description:
46;XX;t(4;14)(p15.2;q13)dn AND multiple conditions
Publication(s):Manickam et al. 2021, Michelson et al. 2011, Redin et al. 2016

Links to Other Resources

Source: NCBI

Genome View
Variant Region Details and Evidence
Validation Information
Clinical Assertions
Genotype Information

Genome View

Select assembly:

Overlapping variant regions from other studies: 84 SVs from 19 studies. See in: genome view

Remapped(Score: Perfect):22,580,380-22,580,380

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop	strand
nsv6314464	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000004.12	Chr4	22,580,380	22,580,380	-
nsv6314464	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000004.12	Chr4	22,580,380	22,580,380	+
nsv6314464	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000014.9	Chr14	31,095,459	31,095,459	+
nsv6314464	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000014.9	Chr14	31,095,460	31,095,460	+
nsv6314464	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000014.9	Chr14	33,542,762	33,542,762	-
nsv6314464	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000014.9	Chr14	33,542,762	33,542,762	+
nsv6314464	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000004.11	Chr4	22,582,003	22,582,003	+
nsv6314464	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000004.11	Chr4	22,582,003	22,582,003	-
nsv6314464	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000014.8	Chr14	31,564,665	31,564,665	+
nsv6314464	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000014.8	Chr14	31,564,666	31,564,666	+
nsv6314464	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000014.8	Chr14	34,011,968	34,011,968	+
nsv6314464	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000014.8	Chr14	34,011,968	34,011,968	-

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17975760	interchromosomal translocation	Multiple	Multiple	Abnormality of the dentition; Abnormality of the dentition; Allergy; Allergy; Anemia; Anemia; Asthma; Asthma; Bruising susceptibility; Bruising susceptibility; Clinodactyly of the 5th finger; Clinodactyly of the 5th finger; Delayed speech and language development; Delayed speech and language development; Gastroesophageal reflux; Gastroesophageal reflux; Global developmental delay; Global developmental delay; Heart murmur; Heart murmur; Hemangioma; Hemangioma; Hypotonia; Macrocephalus; Macrocephaly; Muscular hypotonia; Posteriorly rotated ears; Posteriorly rotated ears; Tapered finger; Tapered finger	Likely pathogenic	ClinVar	RCV000258690.1, VCV000267892.1
nssv17975761	interchromosomal translocation	Multiple	Multiple	Abnormality of the dentition; Abnormality of the dentition; Allergy; Allergy; Anemia; Anemia; Asthma; Asthma; Bruising susceptibility; Bruising susceptibility; Clinodactyly of the 5th finger; Clinodactyly of the 5th finger; Delayed speech and language development; Delayed speech and language development; Gastroesophageal reflux; Gastroesophageal reflux; Global developmental delay; Global developmental delay; Heart murmur; Heart murmur; Hemangioma; Hemangioma; Hypotonia; Macrocephalus; Macrocephaly; Muscular hypotonia; Posteriorly rotated ears; Posteriorly rotated ears; Tapered finger; Tapered finger	Likely pathogenic	ClinVar	RCV000258690.1, VCV000267892.1
nssv17975759	intrachromosomal translocation	Multiple	Multiple	Abnormality of the dentition; Abnormality of the dentition; Allergy; Allergy; Anemia; Anemia; Asthma; Asthma; Bruising susceptibility; Bruising susceptibility; Clinodactyly of the 5th finger; Clinodactyly of the 5th finger; Delayed speech and language development; Delayed speech and language development; Gastroesophageal reflux; Gastroesophageal reflux; Global developmental delay; Global developmental delay; Heart murmur; Heart murmur; Hemangioma; Hemangioma; Hypotonia; Macrocephalus; Macrocephaly; Muscular hypotonia; Posteriorly rotated ears; Posteriorly rotated ears; Tapered finger; Tapered finger	Likely pathogenic	ClinVar	RCV000258690.1, VCV000267892.1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop	strand
nssv17975760	Remapped	Perfect	GRCh38.p12	First Pass	NC_000004.12	Chr4	22,580,380	22,580,380	+
nssv17975761	Remapped	Perfect	GRCh38.p12	First Pass	NC_000004.12	Chr4	22,580,380	22,580,380	-
nssv17975761	Remapped	Perfect	GRCh38.p12	First Pass	NC_000014.9	Chr14	31,095,459	31,095,459	+
nssv17975759	Remapped	Perfect	GRCh38.p12	First Pass	NC_000014.9	Chr14	31,095,460	31,095,460	+
nssv17975759	Remapped	Perfect	GRCh38.p12	First Pass	NC_000014.9	Chr14	33,542,762	33,542,762	-
nssv17975760	Remapped	Perfect	GRCh38.p12	First Pass	NC_000014.9	Chr14	33,542,762	33,542,762	+
nssv17975760	Submitted genomic		GRCh37 (hg19)		NC_000004.11	Chr4	22,582,003	22,582,003	+
nssv17975761	Submitted genomic		GRCh37 (hg19)		NC_000004.11	Chr4	22,582,003	22,582,003	-
nssv17975761	Submitted genomic		GRCh37 (hg19)		NC_000014.8	Chr14	31,564,665	31,564,665	+
nssv17975759	Submitted genomic		GRCh37 (hg19)		NC_000014.8	Chr14	31,564,666	31,564,666	+
nssv17975759	Submitted genomic		GRCh37 (hg19)		NC_000014.8	Chr14	34,011,968	34,011,968	-
nssv17975760	Submitted genomic		GRCh37 (hg19)		NC_000014.8	Chr14	34,011,968	34,011,968	+

No validation data were submitted for this variant

Clinical Assertions

Variant Call ID	Type	Allele Origin	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17975760	interchromosomal translocation	de novo	Abnormality of the dentition; Abnormality of the dentition; Allergy; Allergy; Anemia; Anemia; Asthma; Asthma; Bruising susceptibility; Bruising susceptibility; Clinodactyly of the 5th finger; Clinodactyly of the 5th finger; Delayed speech and language development; Delayed speech and language development; Gastroesophageal reflux; Gastroesophageal reflux; Global developmental delay; Global developmental delay; Heart murmur; Heart murmur; Hemangioma; Hemangioma; Hypotonia; Macrocephalus; Macrocephaly; Muscular hypotonia; Posteriorly rotated ears; Posteriorly rotated ears; Tapered finger; Tapered finger	Likely pathogenic	ClinVar	RCV000258690.1, VCV000267892.1
nssv17975761	interchromosomal translocation	de novo	Abnormality of the dentition; Abnormality of the dentition; Allergy; Allergy; Anemia; Anemia; Asthma; Asthma; Bruising susceptibility; Bruising susceptibility; Clinodactyly of the 5th finger; Clinodactyly of the 5th finger; Delayed speech and language development; Delayed speech and language development; Gastroesophageal reflux; Gastroesophageal reflux; Global developmental delay; Global developmental delay; Heart murmur; Heart murmur; Hemangioma; Hemangioma; Hypotonia; Macrocephalus; Macrocephaly; Muscular hypotonia; Posteriorly rotated ears; Posteriorly rotated ears; Tapered finger; Tapered finger	Likely pathogenic	ClinVar	RCV000258690.1, VCV000267892.1
nssv17975759	intrachromosomal translocation	de novo	Abnormality of the dentition; Abnormality of the dentition; Allergy; Allergy; Anemia; Anemia; Asthma; Asthma; Bruising susceptibility; Bruising susceptibility; Clinodactyly of the 5th finger; Clinodactyly of the 5th finger; Delayed speech and language development; Delayed speech and language development; Gastroesophageal reflux; Gastroesophageal reflux; Global developmental delay; Global developmental delay; Heart murmur; Heart murmur; Hemangioma; Hemangioma; Hypotonia; Macrocephalus; Macrocephaly; Muscular hypotonia; Posteriorly rotated ears; Posteriorly rotated ears; Tapered finger; Tapered finger	Likely pathogenic	ClinVar	RCV000258690.1, VCV000267892.1

No genotype data were submitted for this variant

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