A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv517752



Internal ID15445045
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:128680560..128799692hg38UCSC Ensembl
InnerchrX:127814538..127933670hg19UCSC Ensembl
InnerchrX:127642219..127761351hg18UCSC Ensembl
InnerchrX:127540073..127659205hg17UCSC Ensembl
CytobandXq25
Allele length
AssemblyAllele length
hg38119133
hg19119133
hg18119133
hg17119133
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv689191, nssv656082, nssv686825, nssv692727, nssv673233, nssv653104, nssv654979, nssv690518, nssv691345, nssv659152, nssv698389, nssv668089, nssv666536, nssv673462
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv517752
Frequency
Sample Size2026
Observed Gain13
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer