A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1176335



Internal ID15530849
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:122943026..123090291hg38UCSC Ensembl
Innerchr12:123427573..123574838hg19UCSC Ensembl
Innerchr12:121993526..122140791hg18UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38147266
hg19147266
hg18147266
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv560492
Supporting Variants
SamplesHGDP01003
Known GenesABCB9, ARL6IP4, LOC100507091, MIR4304, OGFOD2, PITPNM2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1176335
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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