A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv521188



Internal ID15448481
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:134387452..134388694hg38UCSC Ensembl
InnerchrX:133521482..133522724hg19UCSC Ensembl
InnerchrX:133349148..133350390hg18UCSC Ensembl
InnerchrX:133247002..133248244hg17UCSC Ensembl
CytobandXq26.2
Allele length
AssemblyAllele length
hg381243
hg191243
hg181243
hg171243
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv684219, nssv689013
Samples
Known GenesPHF6
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv521188
Frequency
Sample Size2026
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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