A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv891



Internal ID15545135
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:90260422..90293269hg38UCSC Ensembl
OuterchrX:89515421..89548268hg19UCSC Ensembl
OuterchrX:89402077..89434924hg18UCSC Ensembl
OuterchrX:89321566..89354413hg17UCSC Ensembl
CytobandXq21.31
Allele length
AssemblyAllele length
hg388130
hg198130
hg188130
hg178130
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6991
Supporting Variants
SamplesNA19240
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)nssv891
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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