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dbVar

Database of genomic structural variation

nsv5393749

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:593

Description:nsv5040914 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: 701 SVs from 29 studies. See in: genome view

Remapped(Score: Perfect):1,668,672-1,669,264

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5393749	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000023.11	ChrX	1,668,672	1,669,264
nsv5393749	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000023.10	ChrX	1,787,565	1,788,157

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv16884887	alu deletion	Curated	Curated

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv16884887	Remapped	Perfect	NC_000023.11:g.166 8672_1669264del	GRCh38.p12	First Pass	NC_000023.11	ChrX	1,668,672	1,669,264
nssv16884887	Submitted genomic		NC_000023.10:g.178 7565_1788157del	GRCh37 (hg19)		NC_000023.10	ChrX	1,787,565	1,788,157

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)
nssv16884887	0.071	2061	29236

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