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dbVar

Database of genomic structural variation

nsv5551715

Organism: Homo sapiens

Study:nstd206 (Byrska-Bishop et al. 2022)
Variant Type:insertion
Method Type:Sequencing
Submitted on:GRCh38

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:239

Publication(s):Byrska-Bishop et al. 2022

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: 131 SVs from 46 studies. See in: genome view

Submitted genomic70,848,657-70,848,895

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5551715	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000009.12	Chr9	70,848,657	70,848,895
nsv5551715	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000009.11	Chr9	73,463,573	73,463,811

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17023326	insertion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17023326	Submitted genomic		NC_000009.12:g.708 48657_70848895ins5 5	GRCh38 (hg38)		NC_000009.12	Chr9	70,848,657	70,848,895
nssv17023326	Remapped	Perfect	NC_000009.11:g.734 63573_73463811ins5 5	GRCh37.p13	First Pass	NC_000009.11	Chr9	73,463,573	73,463,811

No validation data were submitted for this variant

No clinical assertion data were submitted for this variant

Complete genotype and/or allele frequency data for this study can be found on dbVar's FTP site.

Genotype Information

Variant Call ID	Allele Frequency (AF)	Allele Count (AC)	Allele Number (AN)
nssv17023326	0.006	41	6348

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