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dbVar

Database of genomic structural variation

nsv5384761

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:510

Description:nsv4904096 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: 155 SVs from 30 studies. See in: genome view

Remapped(Score: Perfect):183,994,047-183,994,556

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5384761	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000001.11	Chr1	183,994,047	183,994,556
nsv5384761	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000001.10	Chr1	183,963,181	183,963,690

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv16869144	duplication	Curated	Curated

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv16869144	Remapped	Perfect	NC_000001.11:g.183 994047_183994556du p	GRCh38.p12	First Pass	NC_000001.11	Chr1	183,994,047	183,994,556
nssv16869144	Submitted genomic		NC_000001.10:g.183 963181_183963690du p	GRCh37 (hg19)		NC_000001.10	Chr1	183,963,181	183,963,690

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)
nssv16869144	0.02	588	29246

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