A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv516624



Internal ID15443917
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 StatusM
Merged Variants
Supporting Variantsnssv697388, nssv679705, nssv700825, nssv683445, nssv669634
Samples
Known GenesIL13RA2, LRCH2
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv516624
Frequency
Sample Size2026
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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