A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv517446



Internal ID15444739
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:68076286..68183881hg38UCSC Ensembl
InnerchrX:67296128..67403723hg19UCSC Ensembl
InnerchrX:67212853..67320448hg18UCSC Ensembl
InnerchrX:67079149..67186744hg17UCSC Ensembl
CytobandXq12
Allele length
AssemblyAllele length
hg38107596
hg19107596
hg18107596
hg17107596
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv678921, nssv658941, nssv704874, nssv652040, nssv696779, nssv672910, nssv661435, nssv691931, nssv666916, nssv675916, nssv682821, nssv662791, nssv680951, nssv678117
Samples
Known GenesOPHN1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv517446
Frequency
Sample Size2026
Observed Gain14
Observed Loss0
Observed Complex0
Frequencyn/a


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