A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1125088



Internal ID19272229
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:36467617..36470717hg38UCSC Ensembl
OuterchrX:36485700..36488800hg19UCSC Ensembl
CytobandXp21.1
Allele length
AssemblyAllele length
hg383101
hg193101
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4226n106
Supporting Variantsnssv3977893
SamplesKWS2
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1125088
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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