A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6991



Internal ID15551956
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:90255234..90293269hg38UCSC Ensembl
OuterchrX:89510233..89548268hg19UCSC Ensembl
OuterchrX:89396889..89434924hg18UCSC Ensembl
OuterchrX:89316378..89354413hg17UCSC Ensembl
CytobandXq21.31
Allele length
AssemblyAllele length
hg3811227
hg1911227
hg1811227
hg1711227
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv6350, nssv5236, nssv1849, nssv891, nssv3809, nssv10721
SamplesNA12156, NA12878, NA18956, NA18555, NA19240, NA19129
Known Genes
MethodSequencing
AnalysisEnd-sequence pairs were mapped to the human genome assembly (hg17) using a previously described algorithm (Tuzun et al 2005)
PlatformCapillary
Comments
ReferenceKidd_et_al_2008
Pubmed ID18451855
Accession Number(s)nsv6991
Frequency
Sample Size9
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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