A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1078103



Internal ID19321189
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:2413558..2419959hg38UCSC Ensembl
chrX:2331599..2338000hg19UCSC Ensembl
CytobandXp22.33
Allele length
AssemblyAllele length
hg386402
hg196402
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3769647
SamplesKWP1
Known GenesDHRSX
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1078103
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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