A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3977921



Internal ID18894916
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:107155770..107161770hg38UCSC Ensembl
OuterchrX:106399000..106405000hg19UCSC Ensembl
CytobandXq22.3
Allele length
AssemblyAllele length
hg386001
hg196001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1125116
Supporting Variants
SamplesKWS2
Known GenesNUP62CL
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3977921
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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