A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1051834



Internal ID18794365
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:52294888..52348991hg38UCSC Ensembl
Innerchr12:52688672..52742775hg19UCSC Ensembl
Innerchr12:50974939..51029042hg18UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg3854104
hg1954104
hg1854104
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1502n100
Supporting Variantsnssv3523553
Samples
Known GenesKRT83, KRT86
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1051834
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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