A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv523134



Internal ID8417409
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:41600467..41917489hg38UCSC Ensembl
InnerchrX:41459720..41776742hg19UCSC Ensembl
InnerchrX:41344664..41661686hg18UCSC Ensembl
InnerchrX:41215974..41532996hg17UCSC Ensembl
CytobandXp11.4
Allele length
AssemblyAllele length
hg38317023
hg19317023
hg18317023
hg17317023
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv698839
Samples
Known GenesCASK, GPR34, GPR82
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv523134
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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