A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv517028



Internal ID15097635
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:40050724..40069395hg38UCSC Ensembl
Innerchr1:40516396..40535067hg19UCSC Ensembl
Innerchr1:40288983..40307654hg18UCSC Ensembl
Innerchr1:40185489..40204160hg17UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg3818672
hg1918672
hg1818672
hg1718672
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv663352, nssv651735, nssv671364, nssv653640
Samples
Known GenesCAP1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv517028
Frequency
Sample Size2026
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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