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dbVar

Database of genomic structural variation

nsv4988419

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:1,622

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: 191 SVs from 29 studies. See in: genome view

Submitted genomic128,841,324-128,842,949

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv4988419	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000009.12	Chr9	128,841,326 (-2, +69)	128,842,947 (-85, +2)
nsv4988419	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000009.11	Chr9	131,603,605 (-2, +69)	131,605,226 (-85, +2)

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv16512515	deletion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv16512515	Submitted genomic		NC_000009.12:g.(12 8841324_128841395) _(128842862_128842 949)del	GRCh38 (hg38)		NC_000009.12	Chr9	128,841,326 (-2, +69)	128,842,947 (-85, +2)
nssv16512515	Remapped	Perfect	NC_000009.11:g.(13 1603603_131603674) _(131605141_131605 228)del	GRCh37.p13	First Pass	NC_000009.11	Chr9	131,603,605 (-2, +69)	131,605,226 (-85, +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)
nssv16512515	<0.001	1	29246

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