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dbVar

Database of genomic structural variation

nsv5393450

Organism: Homo sapiens

Study:nstd186 (NCBI Curated Common Structural Variants)
Variant Type:mobile element deletion
Method Type:Curated
Submitted on:GRCh37

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:2,501

Description:nsv5031625 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: 170 SVs from 47 studies. See in: genome view

Remapped(Score: Perfect):12,518,474-12,520,974

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5393450	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000010.11	Chr10	12,518,474	12,520,974
nsv5393450	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000010.10	Chr10	12,560,473	12,562,973

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv16875765	sva deletion	Curated	Curated

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv16875765	Remapped	Perfect	NC_000010.11:g.125 18474_12520974del	GRCh38.p12	First Pass	NC_000010.11	Chr10	12,518,474	12,520,974
nssv16875765	Submitted genomic		NC_000010.10:g.125 60473_12562973del	GRCh37 (hg19)		NC_000010.10	Chr10	12,560,473	12,562,973

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)
nssv16875765	0.521	15249	29244

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