A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv522486



Internal ID15449779
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:97102441..97649028hg38UCSC Ensembl
Innerchr2:97768178..98265491hg19UCSC Ensembl
Innerchr2:97131905..97631923hg18UCSC Ensembl
Innerchr2:97190052..97724009hg17UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg38546588
hg19497314
hg18500019
hg17533958
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv705853
Samples
Known GenesANKRD36, ANKRD36B, COX5B, LOC100506076, LOC100506123
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv522486
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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