A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv7096



Internal ID15552071
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:132954266..132988073hg38UCSC Ensembl
OuterchrX:132088294..132122101hg19UCSC Ensembl
OuterchrX:131915975..131949767hg18UCSC Ensembl
OuterchrX:131813829..131847621hg17UCSC Ensembl
CytobandXq26.2
Allele length
AssemblyAllele length
hg387192
hg197192
hg187192
hg177192
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv912
SamplesNA19240
Known GenesHS6ST2
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)nsv7096
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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