A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv516754



Internal ID15444047
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:8243570..8426212hg38UCSC Ensembl
InnerchrX:8211611..8394253hg19UCSC Ensembl
InnerchrX:8171611..8354253hg18UCSC Ensembl
InnerchrX:8021347..8203989hg17UCSC Ensembl
CytobandXp22.31
Allele length
AssemblyAllele length
hg38182643
hg19182643
hg18182643
hg17182643
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv678902, nssv661055, nssv670641
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv516754
Frequency
Sample Size2026
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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