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

dbVar

Database of genomic structural variation

nsv4666137

Organism: Homo sapiens

Study:nstd186 (NCBI Curated Common Structural Variants)
Variant Type:copy number variation
Method Type:Curated
Submitted on:GRCh37

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:2,196

Description:nsv4621182 from DECIPHER Consensus CNVs. For a full list of variants now included in nstd186, refer to the mapping file provided here.

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: 133 SVs from 30 studies. See in: genome view

Remapped(Score: Perfect):40,447,058-40,449,253

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4666137	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000019.10	Chr19	40,447,058	40,449,253
nsv4666137	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000019.9	Chr19	40,952,965	40,955,160

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv16183403	deletion	Curated	Curated

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv16183403	Remapped	Perfect	NC_000019.10:g.(?_ 40447058)_(4044925 3_?)del	GRCh38.p12	First Pass	NC_000019.10	Chr19	40,447,058	40,449,253
nssv16183403	Submitted genomic		NC_000019.9:g.(?_4 0952965)_(40955160 _?)del	GRCh37 (hg19)		NC_000019.9	Chr19	40,952,965	40,955,160

No validation data were submitted for this variant

No clinical assertion data were submitted for this variant

Genotype Information

Variant Call ID	Allele Frequency (AF)	Allele Count (AC)	Allele Number (AN)
nssv16183403	0.048	90	1892

You are here: NCBI