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dbVar

Database of genomic structural variation

nsv6120331

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:239

Description:nsv5456417 from Byrska-Bishop et. al 2021. 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: 136 SVs from 26 studies. See in: genome view

Remapped(Score: Perfect):95,492,555-95,492,793

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6120331	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000005.10	Chr5	95,492,555	95,492,793
nsv6120331	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000005.9	Chr5	94,828,259	94,828,497

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17676281	deletion	Curated	Curated

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17676281	Remapped	Perfect	NC_000005.10:g.954 92555_95492793del	GRCh38.p12	First Pass	NC_000005.10	Chr5	95,492,555	95,492,793
nssv17676281	Submitted genomic		NC_000005.9:g.9482 8259_94828497del	GRCh37 (hg19)		NC_000005.9	Chr5	94,828,259	94,828,497

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)
nssv17676281	0.024	153	6404

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