A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv560564



Internal ID16001287
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:124540407..124545024hg38UCSC Ensembl
Innerchr12:125024953..125029570hg19UCSC Ensembl
Innerchr12:123590906..123595523hg18UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg384618
hg194618
hg184618
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2940n54
Supporting Variantsnssv804021, nssv804022
Samples
Known GenesNCOR2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv560564
Frequency
Sample Size17421
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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