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

dbVar

Database of genomic structural variation

nsv5392704

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:31,724

Description:nsv5020455 from Abel et. al 2020. 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: 1106 SVs from 87 studies. See in: genome view

Remapped(Score: Perfect):40,849,916-40,881,639

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5392704	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000019.10	Chr19	40,849,916	40,881,639
nsv5392704	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000019.9	Chr19	41,355,821	41,387,544

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv16886017	deletion	Curated	Curated

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv16886017	Remapped	Perfect	NC_000019.10:g.408 49916_40881639del	GRCh38.p12	First Pass	NC_000019.10	Chr19	40,849,916	40,881,639
nssv16886017	Submitted genomic		NC_000019.9:g.4135 5821_41387544del	GRCh37 (hg19)		NC_000019.9	Chr19	41,355,821	41,387,544

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)
nssv16886017	0.015	442	29246

You are here: NCBI