A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3523528



Internal ID18475123
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:49284746..49429385hg38UCSC Ensembl
Innerchr12:49678529..49823168hg19UCSC Ensembl
Innerchr12:47964796..48109435hg18UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg38144640
hg19144640
hg18144640
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1042122
Supporting Variants
Samples
Known GenesC1QL4, DNAJC22, LOC100335030, PRPH, SPATS2, TROAP
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3523528
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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