A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv519628



Internal ID15100235
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:130954899..130958991hg38UCSC Ensembl
Innerchr12:131439444..131443536hg19UCSC Ensembl
Innerchr12:130005397..130009489hg18UCSC Ensembl
Innerchr12:129964324..129968416hg17UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg384093
hg194093
hg184093
hg174093
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv694210, nssv662292, nssv679372, nssv657232, nssv704891
Samples
Known GenesGPR133
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv519628
Frequency
Sample Size2026
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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