A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv517708



Internal ID15098315
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:223393925..223394461hg38UCSC Ensembl
Innerchr1:223567267..223567803hg19UCSC Ensembl
Innerchr1:221633890..221634426hg18UCSC Ensembl
Innerchr1:219939046..219939582hg17UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg38537
hg19537
hg18537
hg17537
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv671037, nssv652917, nssv688017, nssv676838, nssv683331, nssv662997, nssv656875, nssv680691, nssv660426, nssv679393, nssv663272, nssv684089, nssv658315, nssv657651, nssv687388, nssv656191, nssv669588, nssv656993, nssv654747, nssv674072, nssv681071, nssv677711, nssv674673
Samples
Known GenesC1orf65
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv517708
Frequency
Sample Size2026
Observed Gain0
Observed Loss23
Observed Complex0
Frequencyn/a


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