A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6929



Internal ID15205201
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:64248242..64270283hg38UCSC Ensembl
OuterchrX:63468122..63490163hg19UCSC Ensembl
OuterchrX:63384847..63406888hg18UCSC Ensembl
OuterchrX:63251143..63273184hg17UCSC Ensembl
CytobandXq11.1
Allele length
AssemblyAllele length
hg386776
hg196776
hg186776
hg176776
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv880, nssv5230
SamplesNA19240, NA19129
Known GenesMTMR8
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)nsv6929
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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