A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1078672



Internal ID19317665
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:62462729..62662830hg38UCSC Ensembl
chrX:61682199..61882300hg19UCSC Ensembl
CytobandXq11.1
Allele length
AssemblyAllele length
hg38200102
hg19200102
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3764605
SamplesKWP1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1078672
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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