A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv516364



Internal ID15443657
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:28880697..29356165hg38UCSC Ensembl
InnerchrX:28898814..29374282hg19UCSC Ensembl
InnerchrX:28808735..29284203hg18UCSC Ensembl
InnerchrX:28658471..29133939hg17UCSC Ensembl
CytobandXp21.2
Allele length
AssemblyAllele length
hg38475469
hg19475469
hg18475469
hg17475469
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv694419, nssv704650, nssv682723, nssv655128, nssv701452, nssv702174, nssv680830, nssv700121, nssv700472, nssv656068, nssv700827, nssv667784, nssv694420, nssv661621, nssv655020, nssv662584, nssv697488
Samples
Known GenesIL1RAPL1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv516364
Frequency
Sample Size2026
Observed Gain17
Observed Loss0
Observed Complex0
Frequencyn/a


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