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dbVar

Database of genomic structural variation

nsv5383891

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:52,870

Description:nsv4889407 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: 1289 SVs from 90 studies. See in: genome view

Remapped(Score: Perfect):1,689,310-1,742,179

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5383891	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000001.11	Chr1	1,689,310	1,742,179
nsv5383891	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000001.10	Chr1	1,620,749	1,673,618

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv16878606	deletion	Curated	Curated

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv16878606	Remapped	Perfect	NC_000001.11:g.168 9310_1742179del	GRCh38.p12	First Pass	NC_000001.11	Chr1	1,689,310	1,742,179
nssv16878606	Submitted genomic		NC_000001.10:g.162 0749_1673618del	GRCh37 (hg19)		NC_000001.10	Chr1	1,620,749	1,673,618

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)
nssv16878606	0.017	490	29246

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