A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv517078



Internal ID15444371
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:70546008..70901224hg38UCSC Ensembl
InnerchrX:69765858..70121074hg19UCSC Ensembl
InnerchrX:69682583..70037799hg18UCSC Ensembl
InnerchrX:69548879..69904095hg17UCSC Ensembl
CytobandXq13.1
Allele length
AssemblyAllele length
hg38355217
hg19355217
hg18355217
hg17355217
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv688356, nssv673361, nssv655536, nssv677228, nssv661775, nssv683661, nssv684706, nssv663554, nssv683300, nssv652952, nssv690319, nssv670022, nssv678486, nssv657733, nssv688476, nssv685682, nssv676367, nssv684114, nssv673040, nssv668288, nssv670446, nssv671216, nssv661622, nssv682194, nssv686519, nssv666887, nssv685786, nssv703917, nssv674114, nssv693455, nssv704926, nssv653741, nssv664152, nssv672025, nssv670089, nssv669990, nssv664119, nssv656908, nssv691177, nssv690519, nssv674866, nssv694750, nssv662504, nssv675714, nssv652128, nssv683315
Samples
Known GenesTEX11
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv517078
Frequency
Sample Size2026
Observed Gain46
Observed Loss0
Observed Complex0
Frequencyn/a


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