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dbVar

Database of genomic structural variation

nsv4977109

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:11,284

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: 111 SVs from 19 studies. See in: genome view

Submitted genomic116,828,712-116,839,997

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv4977109	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000010.11	Chr10	116,828,713 (-1, +3)	116,839,996 (-5, +1)
nsv4977109	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000010.10	Chr10	118,588,224 (-1, +3)	118,599,507 (-5, +1)

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv16523270	deletion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv16523270	Submitted genomic		NC_000010.11:g.(11 6828712_116828716) _(116839991_116839 997)del	GRCh38 (hg38)		NC_000010.11	Chr10	116,828,713 (-1, +3)	116,839,996 (-5, +1)
nssv16523270	Remapped	Perfect	NC_000010.10:g.(11 8588223_118588227) _(118599502_118599 508)del	GRCh37.p13	First Pass	NC_000010.10	Chr10	118,588,224 (-1, +3)	118,599,507 (-5, +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)
nssv16523270	<0.001	1	29246

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