A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1175761



Internal ID15879025
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:7825127..7923089hg38UCSC Ensembl
Innerchr12:7977723..8075685hg19UCSC Ensembl
Innerchr12:7868990..7966952hg18UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg3897963
hg1997963
hg1897963
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv557279
Supporting Variants
SamplesHGDP01295
Known GenesSLC2A14, SLC2A3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1175761
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer