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

dbVar

Database of genomic structural variation

nsv7137203

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:1,497,821

Description:GRCh37/hg19 7q11.23(chr7:72664461-74162586) AND 7q11.23 microduplication syndrome
Publication(s):Mervis et al. 2015

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: 4807 SVs from 104 studies. See in: genome view

Remapped(Score: Good):73,250,429-74,748,249

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Outer Start	Outer Stop
nsv7137203	Remapped	Good	GRCh38.p12	Primary Assembly	First Pass	NC_000007.14	Chr7	73,250,429	74,748,249
nsv7137203	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000007.13	Chr7	72,664,461	74,162,586

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv18830985	copy number gain	Multiple	Multiple	7q11.23 Duplication Syndrome; WILLIAMS-BEUREN REGION DUPLICATION SYNDROME; Williams-Beuren region duplication syndrome	Pathogenic	ClinVar	RCV003319591.1, VCV002574694.1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Outer Stop
nssv18830985	Remapped	Good	NC_000007.14:g.(73 250429_?)_(?_74748 249)dup	GRCh38.p12	First Pass	NC_000007.14	Chr7	73,250,429	74,748,249
nssv18830985	Submitted genomic		NC_000007.13:g.(72 664461_?)_(?_74162 586)dup	GRCh37 (hg19)		NC_000007.13	Chr7	72,664,461	74,162,586

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
nssv18830985	GRCh37: NC_000007.13:g.(72664461_?)_(?_74162586)dup	copy number gain	inherited	7q11.23 Duplication Syndrome; WILLIAMS-BEUREN REGION DUPLICATION SYNDROME; Williams-Beuren region duplication syndrome	Pathogenic	ClinVar	RCV003319591.1, VCV002574694.1

No genotype data were submitted for this variant

You are here: NCBI