A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv7086



Internal ID15205374
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:129567307..129601398hg38UCSC Ensembl
OuterchrX:128701284..128735375hg19UCSC Ensembl
OuterchrX:128528965..128563056hg18UCSC Ensembl
OuterchrX:128426819..128460910hg17UCSC Ensembl
CytobandXq25
Allele length
AssemblyAllele length
hg385933
hg195933
hg185933
hg175933
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2839
SamplesNA18555
Known GenesOCRL
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)nsv7086
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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