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dbVar

Database of genomic structural variation

nsv5553784

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:779

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: 565 SVs from 69 studies. See in: genome view

Submitted genomic650,551-651,329

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5553784	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000005.10	Chr5	650,551	651,329
nsv5553784	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000005.9	Chr5	650,666	651,444

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv16961461	insertion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv16961461	Submitted genomic		NC_000005.10:g.650 551_651329ins1384	GRCh38 (hg38)		NC_000005.10	Chr5	650,551	651,329
nssv16961461	Remapped	Perfect	NC_000005.9:g.6506 66_651444ins1384	GRCh37.p13	First Pass	NC_000005.9	Chr5	650,666	651,444

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)
nssv16961461	0.452	2897	6404

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