A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3978354



Internal ID19240362
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:18105580..18110680hg38UCSC Ensembl
OuterchrX:18123700..18128800hg19UCSC Ensembl
CytobandXp22.13
Allele length
AssemblyAllele length
hg385101
hg195101
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1140018
Supporting Variants
SamplesKWS2
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3978354
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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