A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1176438



Internal ID15508394
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:131748598..131937699hg38UCSC Ensembl
Innerchr12:132233143..132422244hg19UCSC Ensembl
Innerchr12:130799096..130988197hg18UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg38189102
hg19189102
hg18189102
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv560927
Supporting Variants
Samples1780862435_A
Known GenesMMP17, PUS1, SFSWAP, ULK1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1176438
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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