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dbVar

Database of genomic structural variation

nsv4804707

Organism: Homo sapiens

Study:nstd200 (Abel et al. 2020)
Variant Type:copy number variation
Method Type:Sequencing
Submitted on:GRCh37

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:1,111,543

Publication(s):Abel et al. 2020

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: 2923 SVs from 88 studies. See in: genome view

Remapped(Score: Perfect):236,094,906-237,206,453

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv4804707	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000002.12	Chr2	236,094,909 (-3, +3)	237,206,451 (-1, +2)
nsv4804707	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000002.11	Chr2	237,003,553 (-3, +3)	238,115,094 (-1, +2)

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv16391609	duplication	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv16391609	Remapped	Perfect	NC_000002.12:g.(23 6094906_236094912) _(237206450_237206 453)dup	GRCh38.p12	First Pass	NC_000002.12	Chr2	236,094,909 (-3, +3)	237,206,451 (-1, +2)
nssv16391609	Submitted genomic		NC_000002.11:g.(23 7003550_237003556) _(238115093_238115 096)dup	GRCh37 (hg19)		NC_000002.11	Chr2	237,003,553 (-3, +3)	238,115,094 (-1, +2)

No validation data were submitted for this variant

No clinical assertion data were submitted for this variant

Genotype Information

Variant Call ID	Allele Frequency (AF)	Allele Count (AC)	Allele Number (AN)
nssv16391609	<0.001	1	16834

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