A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3961762



Internal ID19216288
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:103870200..103873700hg38UCSC Ensembl
OuterchrX:103125100..103128600hg19UCSC Ensembl
CytobandXq22.2
Allele length
AssemblyAllele length
hg383501
hg193501
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1129089
Supporting Variants
SamplesKWS1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3961762
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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