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

dbVar

Database of genomic structural variation

nsv7098849

Organism: Homo sapiens

Study:nstd102 (Clinical Structural Variants)
Variant Type:copy number variation
Method Type:Multiple
Submitted on:GRCh37

Variant Calls:1
Validation:Not tested
Clinical Assertions: Yes
Region Size:4,916,130

Description:GRCh37/hg19 3q13.13-13.31(chr3:110966195-115843176)x1 AND Chromosome 3q13.31 deletion syndrome

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: 11153 SVs from 118 studies. See in: genome view

Remapped(Score: Perfect):111,224,936-116,141,065

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop	Outer Stop
nsv7098849	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000003.12	Chr3	111,224,936	111,247,348	116,124,329	116,141,065
nsv7098849	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000003.11	Chr3	110,943,783	110,966,195	115,843,176	115,859,912

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv18792781	copy number loss	Multiple	Multiple	CHROMOSOME 3q13.31 DELETION SYNDROME; Chromosome 3q13.31 deletion syndrome	Pathogenic	ClinVar	RCV003222552.1, VCV002498335.1	1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop	Outer Stop
nssv18792781	Remapped	Perfect	NC_000003.12:g.(11 1224936_111247348) _(116124329_116141 065)del	GRCh38.p12	First Pass	NC_000003.12	Chr3	111,224,936	111,247,348	116,124,329	116,141,065
nssv18792781	Submitted genomic		NC_000003.11:g.(11 0943783_110966195) _(115843176_115859 912)del	GRCh37 (hg19)		NC_000003.11	Chr3	110,943,783	110,966,195	115,843,176	115,859,912

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	Copy number
nssv18792781	GRCh37: NC_000003.11:g.(110943783_110966195)_(115843176_115859912)del	copy number loss	de novo	CHROMOSOME 3q13.31 DELETION SYNDROME; Chromosome 3q13.31 deletion syndrome	Pathogenic	ClinVar	RCV003222552.1, VCV002498335.1	1

No genotype data were submitted for this variant

You are here: NCBI