Warning: The NCBI web site requires JavaScript to function. more...

dbVar

Database of genomic structural variation

nsv6314238

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;XY;t(3;5)(q24;p15.3)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: 85 SVs from 18 studies. See in: genome view

Remapped(Score: Perfect):147,710,720-147,710,720

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop	strand
nsv6314238	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000003.12	Chr3	147,710,720	147,710,720	+
nsv6314238	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000003.12	Chr3	147,710,729	147,710,729	-
nsv6314238	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000005.10	Chr5	11,420,528	11,420,528	-
nsv6314238	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000005.10	Chr5	11,420,538	11,420,538	+
nsv6314238	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000003.11	Chr3	147,428,507	147,428,507	+
nsv6314238	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000003.11	Chr3	147,428,516	147,428,516	-
nsv6314238	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000005.9	Chr5	11,420,640	11,420,640	-
nsv6314238	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000005.9	Chr5	11,420,650	11,420,650	+

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17975373	interchromosomal translocation	Multiple	Multiple	ATTENTION DEFICIT-HYPERACTIVITY DISORDER; ADHD; Abnormal aggressive, impulsive or violent behavior; Abnormal aggressive, impulsive or violent behavior; Abnormal facial shape; Abnormal facial shape; Abnormal hair pattern; Abnormal hair pattern; Abnormal subcutaneous fat tissue distribution; Abnormal subcutaneous fat tissue distribution; Aggressive behavior; Aggressive behavior; Attention deficit hyperactivity disorder; Attention deficit hyperactivity disorder; Atypical behavior; Autism with high cognitive abilities; Autism with high cognitive abilities; Behavioral abnormality; Delayed speech and language development; Delayed speech and language development; Global developmental delay; Global developmental delay; High palate; High palate; Pes planus; Pes planus; Prominent forehead; Prominent forehead; Upslanted palpebral fissure; Upslanted palpebral fissure	Pathogenic	ClinVar	RCV000258570.1, VCV000267902.1
nssv17975374	interchromosomal translocation	Multiple	Multiple	ATTENTION DEFICIT-HYPERACTIVITY DISORDER; ADHD; Abnormal aggressive, impulsive or violent behavior; Abnormal aggressive, impulsive or violent behavior; Abnormal facial shape; Abnormal facial shape; Abnormal hair pattern; Abnormal hair pattern; Abnormal subcutaneous fat tissue distribution; Abnormal subcutaneous fat tissue distribution; Aggressive behavior; Aggressive behavior; Attention deficit hyperactivity disorder; Attention deficit hyperactivity disorder; Atypical behavior; Autism with high cognitive abilities; Autism with high cognitive abilities; Behavioral abnormality; Delayed speech and language development; Delayed speech and language development; Global developmental delay; Global developmental delay; High palate; High palate; Pes planus; Pes planus; Prominent forehead; Prominent forehead; Upslanted palpebral fissure; Upslanted palpebral fissure	Pathogenic	ClinVar	RCV000258570.1, VCV000267902.1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop	strand
nssv17975373	Remapped	Perfect	GRCh38.p12	First Pass	NC_000003.12	Chr3	147,710,720	147,710,720	+
nssv17975374	Remapped	Perfect	GRCh38.p12	First Pass	NC_000003.12	Chr3	147,710,729	147,710,729	-
nssv17975373	Remapped	Perfect	GRCh38.p12	First Pass	NC_000005.10	Chr5	11,420,528	11,420,528	-
nssv17975374	Remapped	Perfect	GRCh38.p12	First Pass	NC_000005.10	Chr5	11,420,538	11,420,538	+
nssv17975373	Submitted genomic		GRCh37 (hg19)		NC_000003.11	Chr3	147,428,507	147,428,507	+
nssv17975374	Submitted genomic		GRCh37 (hg19)		NC_000003.11	Chr3	147,428,516	147,428,516	-
nssv17975373	Submitted genomic		GRCh37 (hg19)		NC_000005.9	Chr5	11,420,640	11,420,640	-
nssv17975374	Submitted genomic		GRCh37 (hg19)		NC_000005.9	Chr5	11,420,650	11,420,650	+

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
nssv17975373	interchromosomal translocation	de novo	ATTENTION DEFICIT-HYPERACTIVITY DISORDER; ADHD; Abnormal aggressive, impulsive or violent behavior; Abnormal aggressive, impulsive or violent behavior; Abnormal facial shape; Abnormal facial shape; Abnormal hair pattern; Abnormal hair pattern; Abnormal subcutaneous fat tissue distribution; Abnormal subcutaneous fat tissue distribution; Aggressive behavior; Aggressive behavior; Attention deficit hyperactivity disorder; Attention deficit hyperactivity disorder; Atypical behavior; Autism with high cognitive abilities; Autism with high cognitive abilities; Behavioral abnormality; Delayed speech and language development; Delayed speech and language development; Global developmental delay; Global developmental delay; High palate; High palate; Pes planus; Pes planus; Prominent forehead; Prominent forehead; Upslanted palpebral fissure; Upslanted palpebral fissure	Pathogenic	ClinVar	RCV000258570.1, VCV000267902.1
nssv17975374	interchromosomal translocation	de novo	ATTENTION DEFICIT-HYPERACTIVITY DISORDER; ADHD; Abnormal aggressive, impulsive or violent behavior; Abnormal aggressive, impulsive or violent behavior; Abnormal facial shape; Abnormal facial shape; Abnormal hair pattern; Abnormal hair pattern; Abnormal subcutaneous fat tissue distribution; Abnormal subcutaneous fat tissue distribution; Aggressive behavior; Aggressive behavior; Attention deficit hyperactivity disorder; Attention deficit hyperactivity disorder; Atypical behavior; Autism with high cognitive abilities; Autism with high cognitive abilities; Behavioral abnormality; Delayed speech and language development; Delayed speech and language development; Global developmental delay; Global developmental delay; High palate; High palate; Pes planus; Pes planus; Prominent forehead; Prominent forehead; Upslanted palpebral fissure; Upslanted palpebral fissure	Pathogenic	ClinVar	RCV000258570.1, VCV000267902.1

No genotype data were submitted for this variant

You are here: NCBI