A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6910



Internal ID15551867
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:53646996..53691792hg38UCSC Ensembl
OuterchrX:53673939..53718732hg19UCSC Ensembl
OuterchrX:53690664..53735457hg18UCSC Ensembl
OuterchrX:53556960..53601753hg17UCSC Ensembl
CytobandXp11.22
Allele length
AssemblyAllele length
hg3844797
hg1944794
hg1844794
hg1744794
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv8726
SamplesNA12156
Known GenesHUWE1
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)nsv6910
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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