A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv517575



Internal ID15098182
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:117001709..117002080hg38UCSC Ensembl
Innerchr1:117544331..117544702hg19UCSC Ensembl
Innerchr1:117345854..117346225hg18UCSC Ensembl
Innerchr1:117256373..117256744hg17UCSC Ensembl
Cytoband1p13.1
Allele length
AssemblyAllele length
hg38372
hg19372
hg18372
hg17372
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv690363, nssv652415, nssv672610
Samples
Known GenesCD101
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv517575
Frequency
Sample Size2026
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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