A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1049391



Internal ID18791922
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 StatusM
Merged Variantsdgv1337n100
Supporting Variantsnssv3517290, nssv3517512, nssv3520516, nssv3514290
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)nsv1049391
Frequency
Sample Size29084
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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