A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv517470



Internal ID15098077
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:117815479..117829163hg38UCSC Ensembl
Innerchr11:117686194..117699878hg19UCSC Ensembl
Innerchr11:117191404..117205088hg18UCSC Ensembl
Innerchr11:117191404..117205088hg17UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg3813685
hg1913685
hg1813685
hg1713685
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv698365, nssv704517, nssv663695, nssv690976, nssv681593, nssv673614, nssv673581, nssv652115, nssv673156, nssv663119, nssv669787, nssv697154, nssv705888, nssv664156, nssv657802, nssv683878, nssv674769
Samples
Known GenesFXYD2, FXYD6-FXYD2
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv517470
Frequency
Sample Size2026
Observed Gain0
Observed Loss17
Observed Complex0
Frequencyn/a


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