A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1041903



Internal ID18784434
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:52526608..52550956hg38UCSC Ensembl
Innerchr12:52920392..52944740hg19UCSC Ensembl
Innerchr12:51206659..51231007hg18UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg3824349
hg1924349
hg1824349
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3523592
Samples
Known GenesKRT71
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1041903
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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