A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv679705



Internal ID15416357
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:114981600..115124568hg38UCSC Ensembl
InnerchrX:114216163..114359131hg19UCSC Ensembl
InnerchrX:114122419..114265387hg18UCSC Ensembl
InnerchrX:114039143..114182111hg17UCSC Ensembl
CytobandXq23
Allele length
AssemblyAllele length
hg38142969
hg19142969
hg18142969
hg17142969
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv516624
Supporting Variants
Samples
Known GenesIL13RA2, LRCH2
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv679705
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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