A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1078127



Internal ID19323286
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:115843466..115889167hg38UCSC Ensembl
chrX:114959799..115005500hg19UCSC Ensembl
CytobandXq23
Allele length
AssemblyAllele length
hg3845702
hg1945702
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3764070
SamplesKWP1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1078127
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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