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dbVar

Database of genomic structural variation

nsv5655281

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: 96 SVs from 29 studies. See in: genome view

Submitted genomic51,147,274-51,147,274

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5655281	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000012.12	Chr12	51,147,274	51,147,274
nsv5655281	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000012.11	Chr12	51,541,057	51,541,057

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv17092028	insertion	SAMN00001695	Sequencing	Sequence alignment	6,153

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17092028	Submitted genomic		NC_000012.12:g.511 47274_51147275ins1 358	GRCh38 (hg38)		NC_000012.12	Chr12	51,147,274	51,147,274
nssv17092028	Remapped	Perfect	NC_000012.11:g.515 41057_51541058ins1 358	GRCh37.p13	First Pass	NC_000012.11	Chr12	51,541,057	51,541,057

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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