A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv560395



Internal ID16347804
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:119094625..119120760hg38UCSC Ensembl
Innerchr12:119532430..119558565hg19UCSC Ensembl
Innerchr12:118016813..118042948hg18UCSC Ensembl
Cytoband12q24.23
Allele length
AssemblyAllele length
hg3826136
hg1926136
hg1826136
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1176331
Samples1780854538_A
Known GenesSRRM4
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv560395
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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