A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1037463



Internal ID18779994
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:52294888..52389052hg38UCSC Ensembl
Innerchr12:52688672..52782836hg19UCSC Ensembl
Innerchr12:50974939..51069103hg18UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg3894165
hg1994165
hg1894165
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1503n100
Supporting Variantsnssv3523576, nssv3523561, nssv3712477, nssv3523573, nssv3712470, nssv3712475, nssv3523578, nssv3712472, nssv3523575, nssv3523568, nssv3712479, nssv3523577, nssv3712480, nssv3712476, nssv3523566, nssv3523562, nssv3712471, nssv3712474, nssv3523574, nssv3712481, nssv3523563, nssv3523569, nssv3523572, nssv3523571, nssv3523564, nssv3523565, nssv3712478, nssv3523570, nssv3523567, nssv3712473
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)nsv1037463
Frequency
Sample Size29084
Observed Gain30
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer