A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv787249



Internal ID15734519
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:6228808..6233755hg38UCSC Ensembl
Innerchr12:6337974..6342921hg19UCSC Ensembl
Innerchr12:6208235..6213182hg18UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg384948
hg194948
hg184948
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv557253
Supporting Variants
Samples
Known GenesCD9
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv787249
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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