A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3993219



Internal ID19238295
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:142477814..142483514hg38UCSC Ensembl
OuterchrX:141565600..141571300hg19UCSC Ensembl
CytobandXq27.2
Allele length
AssemblyAllele length
hg385701
hg195701
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1141713
Supporting Variants
SamplesKWS2
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3993219
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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