A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3996698



Internal ID19186813
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:100133801..100147702hg38UCSC Ensembl
OuterchrX:99388799..99402700hg19UCSC Ensembl
CytobandXq22.1
Allele length
AssemblyAllele length
hg3813902
hg1913902
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1147913
Supporting Variants
SamplesKWB1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv3996698
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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