A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3505813



Internal ID18457408
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:1481337..1517246hg38UCSC Ensembl
Innerchr12:1590503..1626412hg19UCSC Ensembl
Innerchr12:1460764..1496673hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3835910
hg1935910
hg1835910
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1051478
Supporting Variants
Samples
Known GenesERC1, LINC00942
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3505813
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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