A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv889192



Internal ID6296203
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:128434900..128584084hg19UCSC Ensembl
Outerchr7:128425768..128591693hg19UCSC Ensembl
Innerchr7:128222136..128371320hg18UCSC Ensembl
Outerchr7:128213004..128378929hg18UCSC Ensembl
Cytoband7q32.1
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
Variant TypeCNV Loss
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsnssv1530587
SamplesMS10311
Known GenesATP6V1F, CCDC136, FLNC, IRF5, KCP, LOC100130705
Method
Analysis
PlatformIllumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3
Comments
ReferenceXu_et_al_2011
Pubmed ID21882294
Accession Number(s)nsv889192
Frequency
Sample Size6533
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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