A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1140025



Internal ID19278637
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:42888751..42892751hg38UCSC Ensembl
OuterchrX:42748000..42752000hg19UCSC Ensembl
CytobandXp11.3
Allele length
AssemblyAllele length
hg384001
hg194001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4232n106
Supporting Variantsnssv3978361
SamplesKWS2
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1140025
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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