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dbVar

Database of genomic structural variation

nsv4900006

Organism: Homo sapiens

Study:nstd200 (Abel et al. 2020)
Variant Type:mobile element deletion
Method Type:Sequencing
Submitted on:GRCh38

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:476

Publication(s):Abel et al. 2020

Links to Other Resources

Overlapping Genes

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: 119 SVs from 26 studies. See in: genome view

Submitted genomic55,161,408-55,161,884

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv4900006	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000014.9	Chr14	55,161,408	55,161,883 (-1, +1)
nsv4900006	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000014.8	Chr14	55,628,126	55,628,601 (-1, +1)

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv16548879	alu deletion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv16548879	Submitted genomic		NC_000014.9:g.5516 1408_(55161882_551 61884)del	GRCh38 (hg38)		NC_000014.9	Chr14	55,161,408	55,161,883 (-1, +1)
nssv16548879	Remapped	Perfect	NC_000014.8:g.5562 8126_(55628600_556 28602)del	GRCh37.p13	First Pass	NC_000014.8	Chr14	55,628,126	55,628,601 (-1, +1)

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)
nssv16548879	<0.001	21	26622

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