A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv519484



Internal ID15100091
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:106978260..107225478hg38UCSC Ensembl
InnerchrX:106221490..106468708hg19UCSC Ensembl
InnerchrX:106108146..106355364hg18UCSC Ensembl
InnerchrX:106027635..106274853hg17UCSC Ensembl
CytobandXq22.3
Allele length
AssemblyAllele length
hg38247219
hg19247219
hg18247219
hg17247219
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv696747, nssv696321, nssv697798, nssv701299, nssv656377, nssv673860
Samples
Known GenesMORC4, NUP62CL, PIH1D3, RBM41
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv519484
Frequency
Sample Size2026
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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