A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv5243



Internal ID15543821
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:102670679..102703379hg38UCSC Ensembl
OuterchrX:101925607..101958307hg19UCSC Ensembl
OuterchrX:101812263..101844963hg18UCSC Ensembl
OuterchrX:101731752..101764452hg17UCSC Ensembl
CytobandXq22.1
Allele length
AssemblyAllele length
hg386582
hg196582
hg186582
hg176582
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv7017
Supporting Variants
SamplesNA19129
Known GenesARMCX5-GPRASP2
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)nssv5243
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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