A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1038149



Internal ID18780680
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:52138320..52176448hg38UCSC Ensembl
Innerchr12:52532104..52570232hg19UCSC Ensembl
Innerchr12:50818371..50856499hg18UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg3838129
hg1938129
hg1838129
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3523538
Samples
Known GenesKRT80
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1038149
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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