A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3526138



Internal ID18477733
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:126390995..126747350hg38UCSC Ensembl
Innerchr12:126875541..127231896hg19UCSC Ensembl
Innerchr12:125441494..125797849hg18UCSC Ensembl
Cytoband12q24.32
Allele length
AssemblyAllele length
hg38356356
hg19356356
hg18356356
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1046610
Supporting Variants
Samples
Known GenesLINC00943, LINC00944, LOC100128554
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3526138
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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