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dbVar

Database of genomic structural variation

nsv5430229

Organism: Homo sapiens

Study:nstd206 (Byrska-Bishop et al. 2022)
Variant Type:mobile element 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: 123 SVs from 14 studies. See in: genome view

Submitted genomic50,862,203-50,862,203

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5430229	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000017.11	Chr17	50,862,203	50,862,203
nsv5430229	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000017.10	Chr17	48,939,564	48,939,564

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17724728	alu insertion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17724728	Submitted genomic		NC_000017.11:g.508 62203_50862204ins3 23	GRCh38 (hg38)		NC_000017.11	Chr17	50,862,203	50,862,203
nssv17724728	Remapped	Perfect	NC_000017.10:g.489 39564_48939565ins3 23	GRCh37.p13	First Pass	NC_000017.10	Chr17	48,939,564	48,939,564

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)
nssv17724728	0.003	17	6348

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