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dbVar

Database of genomic structural variation

nsv5605420

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: 105 SVs from 23 studies. See in: genome view

Submitted genomic228,139,910-228,139,910

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5605420	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000002.12	Chr2	228,139,910	228,139,910
nsv5605420	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000002.11	Chr2	229,004,626	229,004,626

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv17110167	insertion	SAMN00000419	Sequencing	Sequence alignment	1,071

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17110167	Submitted genomic		NC_000002.12:g.228 139910_228139911in s53	GRCh38 (hg38)		NC_000002.12	Chr2	228,139,910	228,139,910
nssv17110167	Remapped	Perfect	NC_000002.11:g.229 004626_229004627in s53	GRCh37.p13	First Pass	NC_000002.11	Chr2	229,004,626	229,004,626

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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