A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv700540



Internal ID15437192
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:118388145..118813940hg38UCSC Ensembl
InnerchrX:117522108..117947903hg19UCSC Ensembl
InnerchrX:117406136..117831931hg18UCSC Ensembl
InnerchrX:117303990..117729785hg17UCSC Ensembl
CytobandXq24
Allele length
AssemblyAllele length
hg38425796
hg19425796
hg18425796
hg17425796
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv524583
Supporting Variants
Samples
Known GenesDOCK11, IL13RA1, WDR44
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv700540
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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