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dbVar

Database of genomic structural variation

nsv5391736

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:800

Description:nsv4861361 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: 440 SVs from 59 studies. See in: genome view

Remapped(Score: Perfect):816,148-816,947

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5391736	Remapped	Perfect	GRCh38.p12	ALT_REF_LOCI_9	First Pass	NT_187693.1	Chr19\|NT_1 87693.1	816,148	816,947
nsv5391736	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000019.9	Chr19	55,345,034	55,345,833

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv16886696	deletion	Curated	Curated

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv16886696	Remapped	Perfect	NT_187693.1:g.8161 48_816947del	GRCh38.p12	First Pass	NT_187693.1	Chr19\|NT_1 87693.1	816,148	816,947
nssv16886696	Submitted genomic		NC_000019.9:g.5534 5034_55345833del	GRCh37 (hg19)		NC_000019.9	Chr19	55,345,034	55,345,833

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)
nssv16886696	0.132	2118	16004

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