A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv517257



Internal ID15444550
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:118502516..118846744hg38UCSC Ensembl
InnerchrX:117636479..117980707hg19UCSC Ensembl
InnerchrX:117520507..117864735hg18UCSC Ensembl
InnerchrX:117418361..117762589hg17UCSC Ensembl
CytobandXq24
Allele length
AssemblyAllele length
hg38344229
hg19344229
hg18344229
hg17344229
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv527n21
Supporting Variantsnssv703547, nssv702657, nssv686476, nssv687684, nssv705250, nssv654146
Samples
Known GenesDOCK11, IL13RA1, ZCCHC12
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv517257
Frequency
Sample Size2026
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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