A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1152500



Internal ID19197911
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:97507200..97515201hg38UCSC Ensembl
OuterchrX:96762199..96770200hg19UCSC Ensembl
CytobandXq21.33
Allele length
AssemblyAllele length
hg388002
hg198002
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3999680
SamplesKWB1
Known GenesDIAPH2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nsv1152500
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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