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dbVar

Database of genomic structural variation

nsv6314499

Organism: Homo sapiens

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

Variant Calls:2
Validation:Not tested
Clinical Assertions: Yes
Region Size:1

Description:46;XX;inv(5)(q14q33)dn AND multiple conditions
Publication(s):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: 114 SVs from 26 studies. See in: genome view

Remapped(Score: Perfect):118,861,211-118,861,211

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop	strand
nsv6314499	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000005.10	Chr5	118,861,211	118,861,211	-
nsv6314499	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000005.10	Chr5	118,864,914	118,864,914	+
nsv6314499	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000005.10	Chr5	85,894,483	85,894,483	+
nsv6314499	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000005.10	Chr5	85,894,507	85,894,507	-
nsv6314499	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000005.9	Chr5	118,196,906	118,196,906	-
nsv6314499	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000005.9	Chr5	118,200,609	118,200,609	+
nsv6314499	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000005.9	Chr5	85,190,301	85,190,301	+
nsv6314499	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000005.9	Chr5	85,190,325	85,190,325	-

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17975367	inversion	Multiple	Multiple	Autistic behavior; Autistic behavior; Delayed speech and language development; Delayed speech and language development; Downslanted palpebral fissures; Downslanted palpebral fissures; Hirsutism; Hirsutism; Moderate global developmental delay; Moderate global developmental delay; Posteriorly rotated ears; Posteriorly rotated ears; Protruding tongue; Protruding tongue; Strabismus; Strabismus	Uncertain significance	ClinVar	RCV000258567.1, VCV000268008.1
nssv17975368	inversion	Multiple	Multiple	Autistic behavior; Autistic behavior; Delayed speech and language development; Delayed speech and language development; Downslanted palpebral fissures; Downslanted palpebral fissures; Hirsutism; Hirsutism; Moderate global developmental delay; Moderate global developmental delay; Posteriorly rotated ears; Posteriorly rotated ears; Protruding tongue; Protruding tongue; Strabismus; Strabismus	Uncertain significance	ClinVar	RCV000258567.1, VCV000268008.1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17975367	Remapped	Perfect	NC_000005.10:g.118 861211invNC_000005 .10:g.85894483inv	GRCh38.p12	First Pass	NC_000005.10	Chr5	85,894,483	85,894,483
nssv17975368	Remapped	Perfect	NC_000005.10:g.118 864914invNC_000005 .10:g.85894507inv	GRCh38.p12	First Pass	NC_000005.10	Chr5	85,894,507	85,894,507
nssv17975367	Remapped	Perfect	NC_000005.10:g.118 861211invNC_000005 .10:g.85894483inv	GRCh38.p12	First Pass	NC_000005.10	Chr5	118,861,211	118,861,211
nssv17975368	Remapped	Perfect	NC_000005.10:g.118 864914invNC_000005 .10:g.85894507inv	GRCh38.p12	First Pass	NC_000005.10	Chr5	118,864,914	118,864,914
nssv17975367	Submitted genomic		NC_000005.9:g.1181 96906invNC_000005. 9:g.85190301inv	GRCh37 (hg19)		NC_000005.9	Chr5	85,190,301	85,190,301
nssv17975368	Submitted genomic		NC_000005.9:g.8519 0325invNC_000005.9 :g.118200609inv	GRCh37 (hg19)		NC_000005.9	Chr5	85,190,325	85,190,325
nssv17975367	Submitted genomic		NC_000005.9:g.1181 96906invNC_000005. 9:g.85190301inv	GRCh37 (hg19)		NC_000005.9	Chr5	118,196,906	118,196,906
nssv17975368	Submitted genomic		NC_000005.9:g.8519 0325invNC_000005.9 :g.118200609inv	GRCh37 (hg19)		NC_000005.9	Chr5	118,200,609	118,200,609

No validation data were submitted for this variant

Clinical Assertions

Variant Call ID	HGVS	Type	Allele Origin	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17975367	GRCh37: NC_000005.9:g.118196906invNC_000005.9:g.85190301inv	inversion	de novo	Autistic behavior; Autistic behavior; Delayed speech and language development; Delayed speech and language development; Downslanted palpebral fissures; Downslanted palpebral fissures; Hirsutism; Hirsutism; Moderate global developmental delay; Moderate global developmental delay; Posteriorly rotated ears; Posteriorly rotated ears; Protruding tongue; Protruding tongue; Strabismus; Strabismus	Uncertain significance	ClinVar	RCV000258567.1, VCV000268008.1
nssv17975368	GRCh37: NC_000005.9:g.85190325invNC_000005.9:g.118200609inv	inversion	de novo	Autistic behavior; Autistic behavior; Delayed speech and language development; Delayed speech and language development; Downslanted palpebral fissures; Downslanted palpebral fissures; Hirsutism; Hirsutism; Moderate global developmental delay; Moderate global developmental delay; Posteriorly rotated ears; Posteriorly rotated ears; Protruding tongue; Protruding tongue; Strabismus; Strabismus	Uncertain significance	ClinVar	RCV000258567.1, VCV000268008.1

No genotype data were submitted for this variant

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