A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv523443



Internal ID15450736
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:33643819..34666991hg38UCSC Ensembl
Innerchr12:33796754..34819926hg19UCSC Ensembl
Innerchr12:33688021..34711193hg18UCSC Ensembl
Innerchr12:33688021..34711193hg17UCSC Ensembl
Cytoband12p11.1
Allele length
AssemblyAllele length
hg381023173
hg191023173
hg181023173
hg171023173
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv699199
Samples
Known GenesALG10
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv523443
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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