A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv527547



Internal ID15454840
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:29563436..29601554hg38UCSC Ensembl
InnerchrX:29581553..29619671hg19UCSC Ensembl
InnerchrX:29491474..29529592hg18UCSC Ensembl
InnerchrX:29341210..29379328hg17UCSC Ensembl
CytobandXp21.2
Allele length
AssemblyAllele length
hg3838119
hg1938119
hg1838119
hg1738119
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv704008
Samples
Known GenesIL1RAPL1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv527547
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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