A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv523134



Internal ID6020408
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:41459720..41776742hg19UCSC Ensembl
InnerchrX:41344664..41661686hg18UCSC Ensembl
InnerchrX:41215974..41532996hg17UCSC Ensembl
CytobandXp11.4
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
hg17n/a
Variant TypeCNV Gain
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsnssv698839
Samples
Known GenesCASK, GPR34, GPR82
Method
AnalysisCNV regions located outside of or spanning over several merged-level regions determined by the submitter
PlatformIllumina HumanHap550 Genotyping BeadChip v3
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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