A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6993



Internal ID15551958
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:93536451..93586431hg38UCSC Ensembl
OuterchrX:92791450..92841430hg19UCSC Ensembl
OuterchrX:92678106..92728086hg18UCSC Ensembl
OuterchrX:92597595..92647575hg17UCSC Ensembl
CytobandXq21.32
Allele length
AssemblyAllele length
hg3849981
hg1949981
hg1849981
hg1749981
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv6351
SamplesNA12156
Known Genes
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)nsv6993
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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