A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv528786



Internal ID8423061
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:120380837..120471759hg38UCSC Ensembl
InnerchrX:119514692..119605614hg19UCSC Ensembl
InnerchrX:119398720..119489642hg18UCSC Ensembl
InnerchrX:119296574..119387496hg17UCSC Ensembl
CytobandXq24
Allele length
AssemblyAllele length
hg3890923
hg1990923
hg1890923
hg1790923
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv705454
Samples
Known GenesATP1B4, LAMP2
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv528786
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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