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dbVar

Database of genomic structural variation

nsv5557483

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:53

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: 385 SVs from 28 studies. See in: genome view

Submitted genomic79,096,649-79,096,701

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5557483	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000018.10	Chr18	79,096,649	79,096,701
nsv5557483	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000018.9	Chr18	76,856,649	76,856,701

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17719869	line1 insertion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17719869	Submitted genomic		NC_000018.10:g.790 96649_79096701ins1 922	GRCh38 (hg38)		NC_000018.10	Chr18	79,096,649	79,096,701
nssv17719869	Remapped	Perfect	NC_000018.9:g.7685 6649_76856701ins19 22	GRCh37.p13	First Pass	NC_000018.9	Chr18	76,856,649	76,856,701

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)
nssv17719869	0.008	50	6356

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