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dbVar

Database of genomic structural variation

nsv4654037

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:58,651

Description:nsv4128114 from gnomAD Structural Variants. 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: 372 SVs from 50 studies. See in: genome view

Remapped(Score: Perfect):69,721,673-69,780,323

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv4654037	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000005.10	Chr5	69,721,673	69,780,323
nsv4654037	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000005.9	Chr5	69,017,500	69,076,150

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv16169343	deletion	Curated	Curated

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv16169343	Remapped	Perfect	NC_000005.10:g.697 21673_69780323del	GRCh38.p12	First Pass	NC_000005.10	Chr5	69,721,673	69,780,323
nssv16169343	Submitted genomic		NC_000005.9:g.6901 7500_69076150del	GRCh37 (hg19)		NC_000005.9	Chr5	69,017,500	69,076,150

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)
nssv16169343	0.341	7387	21694

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