A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv560458



Internal ID16001181
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:121598620..121715590hg38UCSC Ensembl
Innerchr12:122036525..122153496hg19UCSC Ensembl
Innerchr12:120520908..120637879hg18UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38116971
hg19116972
hg18116972
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv803430
Samples
Known GenesMORN3, ORAI1, TMEM120B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv560458
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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