A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3997341



Internal ID18840036
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:102247105..102292343hg38UCSC Ensembl
OuterchrX:101502099..101547300hg19UCSC Ensembl
CytobandXq22.1
Allele length
AssemblyAllele length
hg3845239
hg1945202
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1145979
Supporting Variants
SamplesKWB1
Known GenesNXF2, NXF2B
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv3997341
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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