A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv522414



Internal ID15103021
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:68116157..68116899hg38UCSC Ensembl
Innerchr1:68581840..68582582hg19UCSC Ensembl
Innerchr1:68354428..68355170hg18UCSC Ensembl
Innerchr1:68293861..68294603hg17UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg38743
hg19743
hg18743
hg17743
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv695197
Samples
Known GenesGNG12-AS1, WLS
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv522414
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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