A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1053209



Internal ID19142428
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:119041241..119061768hg38UCSC Ensembl
Innerchr12:119479046..119499573hg19UCSC Ensembl
Innerchr12:117963429..117983956hg18UCSC Ensembl
Cytoband12q24.23
Allele length
AssemblyAllele length
hg3820528
hg1920528
hg1820528
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1564n100
Supporting Variantsnssv3526079
Samples
Known GenesSRRM4
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1053209
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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