A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3978440



Internal ID19230435
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:87822000..87827000hg38UCSC Ensembl
OuterchrX:87077000..87082000hg19UCSC Ensembl
CytobandXq21.31
Allele length
AssemblyAllele length
hg385001
hg195001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1115877
Supporting Variants
SamplesKWS2
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3978440
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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