A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv700130



Internal ID15436782
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:139433625..139480209hg38UCSC Ensembl
InnerchrX:138515784..138562368hg19UCSC Ensembl
InnerchrX:138343450..138390034hg18UCSC Ensembl
InnerchrX:138241304..138287888hg17UCSC Ensembl
CytobandXq27.1
Allele length
AssemblyAllele length
hg3846585
hg1946585
hg1846585
hg1746585
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv524240
Supporting Variants
Samples
Known GenesSRD5A1P1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv700130
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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