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dbVar

Database of genomic structural variation

nsv5614043

Organism: Homo sapiens

Study:nstd207 (Ebert et al. 2021)
Variant Type:insertion
Method Type:Sequencing
Submitted on:GRCh38

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

Publication(s):Ebert et al. 2021

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: 148 SVs from 36 studies. See in: genome view

Submitted genomic135,415,130-135,415,130

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5614043	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000002.12	Chr2	135,415,130	135,415,130
nsv5614043	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000002.11	Chr2	136,172,700	136,172,700

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv17109003	insertion	HG00512	Sequencing	Sequence alignment	6,637

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17109003	Submitted genomic		NC_000002.12:g.135 415130_135415131in s2527	GRCh38 (hg38)		NC_000002.12	Chr2	135,415,130	135,415,130
nssv17109003	Remapped	Perfect	NC_000002.11:g.136 172700_136172701in s2527	GRCh37.p13	First Pass	NC_000002.11	Chr2	136,172,700	136,172,700

No validation data were submitted for this variant

No clinical assertion data were submitted for this variant

Genotype and/or allele frequency data can be found on dbVar's FTP site.

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