A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1175741



Internal ID15530699
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:124374698..124400703hg38UCSC Ensembl
Innerchr12:124859244..124885249hg19UCSC Ensembl
Innerchr12:123425197..123451202hg18UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg3826006
hg1926006
hg1826006
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv560542
Supporting Variants
SamplesHGDP00977
Known GenesNCOR2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1175741
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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