A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1125081



Internal ID19283295
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:16045577..16048377hg38UCSC Ensembl
OuterchrX:16063700..16066500hg19UCSC Ensembl
CytobandXp22.2
Allele length
AssemblyAllele length
hg382801
hg192801
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3977887
SamplesKWS2
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1125081
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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