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dbVar

Database of genomic structural variation

nsv4894419

Organism: Homo sapiens

Study:nstd200 (Abel et al. 2020)
Variant Type:copy number variation
Method Type:Sequencing
Submitted on:GRCh38

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:464,626

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: 1848 SVs from 91 studies. See in: genome view

Submitted genomic112,670,692-113,135,319

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv4894419	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000001.11	Chr1	112,670,693 (-1)	113,135,318 (-1, +1)
nsv4894419	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000001.10	Chr1	113,213,315 (-1)	113,677,940 (-1, +1)

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv16433622	duplication	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv16433622	Submitted genomic		NC_000001.11:g.(11 2670692_?)_(113135 317_113135319)dup	GRCh38 (hg38)		NC_000001.11	Chr1	112,670,693 (-1)	113,135,318 (-1, +1)
nssv16433622	Remapped	Perfect	NC_000001.10:g.(11 3213314_?)_(113677 939_113677941)dup	GRCh37.p13	First Pass	NC_000001.10	Chr1	113,213,315 (-1)	113,677,940 (-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)
nssv16433622	<0.001	1	29246

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