A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv7040



Internal ID15552010
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:111908575..111953133hg38UCSC Ensembl
OuterchrX:111151803..111196361hg19UCSC Ensembl
OuterchrX:111038459..111083017hg18UCSC Ensembl
OuterchrX:110957948..111002506hg17UCSC Ensembl
CytobandXq23
Allele length
AssemblyAllele length
hg3844559
hg1944559
hg1844559
hg1744559
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv8766
SamplesNA12156
Known GenesTRPC5
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)nsv7040
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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