A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv516469



Internal ID8410744
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:68640253..68949573hg38UCSC Ensembl
InnerchrX:67860095..68169416hg19UCSC Ensembl
InnerchrX:67776820..68086141hg18UCSC Ensembl
InnerchrX:67643116..67952437hg17UCSC Ensembl
CytobandXq13.1
Allele length
AssemblyAllele length
hg38309321
hg19309322
hg18309322
hg17309322
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv690732, nssv655600, nssv662943, nssv668574, nssv657468, nssv660025, nssv660284, nssv681149, nssv670035
Samples
Known GenesEFNB1, STARD8
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv516469
Frequency
Sample Size2026
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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