A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3978445



Internal ID18900006
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:102365279..102374479hg38UCSC Ensembl
OuterchrX:101620200..101629400hg19UCSC Ensembl
CytobandXq22.1
Allele length
AssemblyAllele length
hg389201
hg199201
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1115882
Supporting Variants
SamplesKWS2
Known GenesNXF2, NXF2B
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3978445
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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