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dbVar

Database of genomic structural variation

nsv5607012

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: 86 SVs from 22 studies. See in: genome view

Submitted genomic42,300,179-42,300,179

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5607012	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000004.12	Chr4	42,300,179	42,300,179
nsv5607012	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000004.11	Chr4	42,302,196	42,302,196

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv17125866	insertion	NA24385	Sequencing	Sequence alignment	2,573

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17125866	Submitted genomic		NC_000004.12:g.423 00179_42300180ins5 5	GRCh38 (hg38)		NC_000004.12	Chr4	42,300,179	42,300,179
nssv17125866	Remapped	Perfect	NC_000004.11:g.423 02196_42302197ins5 5	GRCh37.p13	First Pass	NC_000004.11	Chr4	42,302,196	42,302,196

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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