A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3982373



Internal ID18869235
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:17370377..17376377hg38UCSC Ensembl
OuterchrX:17388500..17394500hg19UCSC Ensembl
CytobandXp22.13
Allele length
AssemblyAllele length
hg386001
hg196001
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1145285
Supporting Variants
SamplesKWS1
Known GenesNHS
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3982373
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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