A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3517512



Internal ID18469107
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:1480297..1513637hg38UCSC Ensembl
Innerchr12:1589463..1622803hg19UCSC Ensembl
Innerchr12:1459724..1493064hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3833341
hg1933341
hg1833341
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1049391
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)nssv3517512
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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