A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv515502



Internal ID15096109
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:44522302..44542387hg38UCSC Ensembl
Innerchr7:44561901..44581986hg19UCSC Ensembl
Innerchr7:44528426..44548511hg18UCSC Ensembl
Innerchr7:44335141..44355226hg17UCSC Ensembl
Cytoband7p13
Allele length
AssemblyAllele length
hg3820086
hg1920086
hg1820086
hg1720086
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv656065, nssv653346
Samples
Known GenesNPC1L1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv515502
Frequency
Sample Size2026
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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