A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6939



Internal ID15551898
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:68145895..68191160hg38UCSC Ensembl
OuterchrX:67365737..67411002hg19UCSC Ensembl
OuterchrX:67282462..67327727hg18UCSC Ensembl
OuterchrX:67148758..67194023hg17UCSC Ensembl
CytobandXq12
Allele length
AssemblyAllele length
hg3845266
hg1945266
hg1845266
hg1745266
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv8733
SamplesNA12156
Known GenesOPHN1
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)nsv6939
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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