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dbVar

Database of genomic structural variation

nsv5392382

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:1,088

Description:nsv4852316 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: 160 SVs from 24 studies. See in: genome view

Remapped(Score: Perfect):24,046,231-24,047,318

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5392382	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000018.10	Chr18	24,046,231	24,047,318
nsv5392382	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000018.9	Chr18	21,626,195	21,627,282

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv16884278	deletion	Curated	Curated

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv16884278	Remapped	Perfect	NC_000018.10:g.240 46231_24047318del	GRCh38.p12	First Pass	NC_000018.10	Chr18	24,046,231	24,047,318
nssv16884278	Submitted genomic		NC_000018.9:g.2162 6195_21627282del	GRCh37 (hg19)		NC_000018.9	Chr18	21,626,195	21,627,282

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)
nssv16884278	0.016	265	16834

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