A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1141707



Internal ID19249031
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:133105972..133116872hg38UCSC Ensembl
OuterchrX:132240000..132250900hg19UCSC Ensembl
CytobandXq26.2
Allele length
AssemblyAllele length
hg3810901
hg1910901
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3993213
SamplesKWS2
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1141707
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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