A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv522317



Internal ID15102924
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:150961247..151001686hg38UCSC Ensembl
Innerchr1:150933723..150974162hg19UCSC Ensembl
Innerchr1:149200347..149240786hg18UCSC Ensembl
Innerchr1:147746796..147787235hg17UCSC Ensembl
Cytoband1q21.2
Allele length
AssemblyAllele length
hg3840440
hg1940440
hg1840440
hg1740440
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv695097
Samples
Known GenesANXA9, CERS2, FAM63A, SETDB1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv522317
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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