A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1176497



Internal ID15533210
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:127707924..127774438hg38UCSC Ensembl
Innerchr9:130470203..130536717hg19UCSC Ensembl
Innerchr9:129510024..129576538hg18UCSC Ensembl
Cytoband9q34.11
Allele length
AssemblyAllele length
hg3866515
hg1966515
hg1866515
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv615369
Supporting Variants
SamplesNINDS_124
Known GenesC9orf117, PTRH1, SH2D3C, TOR2A, TTC16
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1176497
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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