A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1039946



Internal ID18782477
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:1320024..1439686hg38UCSC Ensembl
Innerchr12:1429190..1548852hg19UCSC Ensembl
Innerchr12:1299451..1419113hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg38119663
hg19119663
hg18119663
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3510486
Samples
Known GenesERC1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1039946
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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