A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv705288



Internal ID15095254
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:18627439..18660570hg38UCSC Ensembl
InnerchrX:18645559..18678690hg19UCSC Ensembl
InnerchrX:18555480..18588611hg18UCSC Ensembl
InnerchrX:18405216..18438347hg17UCSC Ensembl
CytobandXp22.13
Allele length
AssemblyAllele length
hg3833132
hg1933132
hg1833132
hg1733132
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv528654
Supporting Variants
Samples
Known GenesCDKL5, RS1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv705288
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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