A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv7013



Internal ID15205294
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:100994802..101039808hg38UCSC Ensembl
OuterchrX:100249791..100294797hg19UCSC Ensembl
OuterchrX:100136447..100181453hg18UCSC Ensembl
OuterchrX:100055936..100100942hg17UCSC Ensembl
CytobandXq22.1
Allele length
AssemblyAllele length
hg3845007
hg1945007
hg1845007
hg1745007
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv8756
SamplesNA12156
Known GenesTRMT2B
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)nsv7013
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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