A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1176307



Internal ID15509319
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:52297319..52383729hg38UCSC Ensembl
Innerchr12:52691103..52777513hg19UCSC Ensembl
Innerchr12:50977370..51063780hg18UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg3886411
hg1986411
hg1886411
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv558907
Supporting Variants
Samples1798860306_A
Known GenesKRT83, KRT84, KRT85, KRT86
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1176307
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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