A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv694420



Internal ID15431072
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:29126925..29131337hg38UCSC Ensembl
InnerchrX:29145042..29149454hg19UCSC Ensembl
InnerchrX:29054963..29059375hg18UCSC Ensembl
InnerchrX:28904699..28909111hg17UCSC Ensembl
CytobandXp21.3
Allele length
AssemblyAllele length
hg384413
hg194413
hg184413
hg174413
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv516364
Supporting Variants
Samples
Known GenesIL1RAPL1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv694420
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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