A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1078686



Internal ID19325012
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:131378625..131383226hg38UCSC Ensembl
chrX:130512599..130517200hg19UCSC Ensembl
CytobandXq26.2
Allele length
AssemblyAllele length
hg384602
hg194602
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3766039
SamplesKWP1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1078686
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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