A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1175455



Internal ID15508453
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:27695850..27762012hg38UCSC Ensembl
Innerchr12:27848783..27914945hg19UCSC Ensembl
Innerchr12:27740050..27806212hg18UCSC Ensembl
Cytoband12p11.22
Allele length
AssemblyAllele length
hg3866163
hg1966163
hg1866163
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv557823
Supporting Variants
Samples1780862457_A
Known GenesMRPS35, REP15
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1175455
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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