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

dbVar

Database of genomic structural variation

nsv6290198

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:1,776,196

Description:GRCh37/hg19 1q42.13(chr1:227782268-229506509)x1 AND not provided

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: 4111 SVs from 103 studies. See in: genome view

Remapped(Score: Good):227,594,567-229,370,762

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6290198	Remapped	Good	GRCh38.p12	Primary Assembly	First Pass	NC_000001.11	Chr1	227,594,567	229,370,762
nsv6290198	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000001.10	Chr1	227,782,268	229,506,509

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv17955928	copy number loss	Multiple	Multiple	not provided	Uncertain significance	ClinVar	RCV001795846.4, VCV001328448.4	1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17955928	Remapped	Good	NC_000001.11:g.227 594567_229370762de l	GRCh38.p12	First Pass	NC_000001.11	Chr1	227,594,567	229,370,762
nssv17955928	Submitted genomic		NC_000001.10:g.227 782268_229506509de l	GRCh37 (hg19)		NC_000001.10	Chr1	227,782,268	229,506,509

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
nssv17955928	GRCh37: NC_000001.10:g.227782268_229506509del	copy number loss	unknown	not provided	Uncertain significance	ClinVar	RCV001795846.4, VCV001328448.4	1

No genotype data were submitted for this variant

You are here: NCBI