A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv686476



Internal ID15423128
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:118534120..118846744hg38UCSC Ensembl
InnerchrX:117668083..117980707hg19UCSC Ensembl
InnerchrX:117552111..117864735hg18UCSC Ensembl
InnerchrX:117449965..117762589hg17UCSC Ensembl
CytobandXq24
Allele length
AssemblyAllele length
hg38312625
hg19312625
hg18312625
hg17312625
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv517257
Supporting Variants
Samples
Known GenesDOCK11, IL13RA1, ZCCHC12
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv686476
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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