A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1035461



Internal ID18777992
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:52294888..52388068hg38UCSC Ensembl
Innerchr12:52688672..52781852hg19UCSC Ensembl
Innerchr12:50974939..51068119hg18UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg3893181
hg1993181
hg1893181
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1503n100
Supporting Variantsnssv3523559, nssv3523558, nssv3523560
Samples
Known GenesKRT83, KRT84, KRT85, KRT86
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1035461
Frequency
Sample Size29084
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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