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dbVar

Database of genomic structural variation

nsv5550925

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:1

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: 145 SVs from 26 studies. See in: genome view

Submitted genomic127,192,753-127,192,753

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5550925	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000002.12	Chr2	127,192,753	127,192,753
nsv5550925	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000002.11	Chr2	127,950,329	127,950,329

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv16917738	insertion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv16917738	Submitted genomic		NC_000002.12:g.127 192753_127192754in s337	GRCh38 (hg38)		NC_000002.12	Chr2	127,192,753	127,192,753
nssv16917738	Remapped	Perfect	NC_000002.11:g.127 950329_127950330in s337	GRCh37.p13	First Pass	NC_000002.11	Chr2	127,950,329	127,950,329

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)
nssv16917738	0.459	2917	6350

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