A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1077528



Internal ID18969590
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:144600115..144603316hg38UCSC Ensembl
chr8:145825499..145828700hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg383202
hg193202
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3765540
SamplesKWP1
Known GenesARHGAP39
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1077528
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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