A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3772179



Internal ID18960004
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:31530882..31535183hg38UCSC Ensembl
chrX:31548999..31553300hg19UCSC Ensembl
CytobandXp21.1
Allele length
AssemblyAllele length
hg384302
hg194302
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1077580
Supporting Variants
SamplesKWP1
Known GenesDMD
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nssv3772179
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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