A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3977889



Internal ID19240532
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:17769280..17776780hg38UCSC Ensembl
OuterchrX:17787400..17794900hg19UCSC Ensembl
CytobandXp22.13
Allele length
AssemblyAllele length
hg387501
hg197501
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1125083
Supporting Variants
SamplesKWS2
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3977889
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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