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dbVar

Database of genomic structural variation

nsv4781623

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:1,764

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: 81 SVs from 18 studies. See in: genome view

Remapped(Score: Perfect):84,875,741-84,877,506

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv4781623	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000002.12	Chr2	84,875,742 (-1)	84,877,505 (-1, +1)
nsv4781623	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000002.11	Chr2	85,102,866 (-1)	85,104,629 (-1, +1)

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv16391343	duplication	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv16391343	Remapped	Perfect	NC_000002.12:g.(84 875741_?)_(8487750 4_84877506)dup	GRCh38.p12	First Pass	NC_000002.12	Chr2	84,875,742 (-1)	84,877,505 (-1, +1)
nssv16391343	Submitted genomic		NC_000002.11:g.(85 102865_?)_(8510462 8_85104630)dup	GRCh37 (hg19)		NC_000002.11	Chr2	85,102,866 (-1)	85,104,629 (-1, +1)

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)
nssv16391343	<0.001	1	16834

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