A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv523191



Internal ID15103798
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:44513639..44541392hg38UCSC Ensembl
Innerchr7:44553238..44580991hg19UCSC Ensembl
Innerchr7:44519763..44547516hg18UCSC Ensembl
Innerchr7:44326478..44354231hg17UCSC Ensembl
Cytoband7p13
Allele length
AssemblyAllele length
hg3827754
hg1927754
hg1827754
hg1727754
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv698907
Samples
Known GenesNPC1L1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv523191
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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