A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv557404



Internal ID16344813
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:9466205..9563530hg38UCSC Ensembl
Innerchr12:9618801..9716126hg19UCSC Ensembl
Innerchr12:9510068..9607393hg18UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg3897326
hg1997326
hg1897326
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2349n54
Supporting Variantsnssv787561, nssv787558, nssv787554, nssv787556, nssv787559, nssv787560, nssv787555, nssv787557
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv557404
Frequency
Sample Size17421
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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