A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3999429



Internal ID19192513
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:72891975..72901757hg38UCSC Ensembl
OuterchrX:72111799..72121600hg19UCSC Ensembl
CytobandXq13.2
Allele length
AssemblyAllele length
hg389783
hg199802
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1146228
Supporting Variants
SamplesKWB1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv3999429
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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