A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1036768



Internal ID18779299
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:52423017..52454608hg38UCSC Ensembl
Innerchr12:52816801..52848392hg19UCSC Ensembl
Innerchr12:51103068..51134659hg18UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg3831592
hg1931592
hg1831592
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1504n100
Supporting Variantsnssv3523587
Samples
Known GenesKRT6B, KRT75
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1036768
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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