A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv522941



Internal ID15103548
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:68497196..68787063hg38UCSC Ensembl
Innerchr12:68890976..69180843hg19UCSC Ensembl
Innerchr12:67177243..67467110hg18UCSC Ensembl
Innerchr12:67177243..67467110hg17UCSC Ensembl
Cytoband12q15
Allele length
AssemblyAllele length
hg38289868
hg19289868
hg18289868
hg17289868
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv698605
Samples
Known GenesLOC100507250, NUP107, RAP1B, SLC35E3, SNORA70G
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv522941
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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