A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv517354



Internal ID15097961
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:109239415..109283514hg38UCSC Ensembl
Innerchr1:109782037..109826136hg19UCSC Ensembl
Innerchr1:109583560..109627659hg18UCSC Ensembl
Innerchr1:109494079..109538178hg17UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg3844100
hg1944100
hg1844100
hg1744100
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv704812, nssv680952, nssv682218, nssv704995, nssv700364, nssv688318, nssv674153, nssv651803, nssv692955
Samples
Known GenesCELSR2, PSRC1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv517354
Frequency
Sample Size2026
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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