A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1036648



Internal ID18779179
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:52294888..52383752hg38UCSC Ensembl
Innerchr12:52688672..52777536hg19UCSC Ensembl
Innerchr12:50974939..51063803hg18UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg3888865
hg1988865
hg1888865
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1503n100
Supporting Variantsnssv3523556, nssv3712469
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)nsv1036648
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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