A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1045178



Internal ID18787709
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:120793658..120833931hg38UCSC Ensembl
Innerchr12:121231461..121271734hg19UCSC Ensembl
Innerchr12:119715844..119756117hg18UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg3840274
hg1940274
hg1840274
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3526089
Samples
Known GenesSPPL3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1045178
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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