A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv5241



Internal ID15543833
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:99187638..99232555hg38UCSC Ensembl
OuterchrX:98442636..98487553hg19UCSC Ensembl
OuterchrX:98329292..98374209hg18UCSC Ensembl
OuterchrX:98248781..98293698hg17UCSC Ensembl
CytobandXq22.1
Allele length
AssemblyAllele length
hg3844918
hg1944918
hg1844918
hg1744918
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv7006
Supporting Variants
SamplesNA19129
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)nssv5241
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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