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

dbVar

Database of genomic structural variation

nsv6315334

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:12,487,455

Description:GRCh37/hg19 5p15.33-15.2(chr5:113576-12601027) AND 5p partial monosomy syndrome
Publication(s):Dondorp 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: 47436 SVs from 136 studies. See in: genome view

Remapped(Score: Perfect):113,461-12,600,915

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv6315334	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000005.10	Chr5	113,461	12,600,915
nsv6315334	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000005.9	Chr5	113,576	12,601,027

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17976839	copy number loss	Multiple	Multiple	5p partial monosomy syndrome; CRI-DU-CHAT SYNDROME; Monosomy 5p	Pathogenic	ClinVar	RCV002280774.1, VCV001703686.1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv17976839	Remapped	Perfect	NC_000005.10:g.(?_ 113461)_(12600915_ ?)del	GRCh38.p12	First Pass	NC_000005.10	Chr5	113,461	12,600,915
nssv17976839	Submitted genomic		NC_000005.9:g.(?_1 13576)_(12601027_? )del	GRCh37 (hg19)		NC_000005.9	Chr5	113,576	12,601,027

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
nssv17976839	GRCh37: NC_000005.9:g.(?_113576)_(12601027_?)del	copy number loss	unknown	5p partial monosomy syndrome; CRI-DU-CHAT SYNDROME; Monosomy 5p	Pathogenic	ClinVar	RCV002280774.1, VCV001703686.1

No genotype data were submitted for this variant

You are here: NCBI