A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv5240



Internal ID15543842
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:96050387..96072249hg38UCSC Ensembl
OuterchrX:95305386..95327248hg19UCSC Ensembl
OuterchrX:95192042..95213904hg18UCSC Ensembl
OuterchrX:95111531..95133393hg17UCSC Ensembl
CytobandXq21.33
Allele length
AssemblyAllele length
hg3821863
hg1921863
hg1821863
hg1721863
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6997
Supporting Variants
SamplesNA19129
Known GenesMIR548AE1
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)nssv5240
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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