A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1078573



Internal ID19315996
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:170736711..170745912hg38UCSC Ensembl
chr6:171045799..171055000hg19UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg389202
hg199202
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3762247
SamplesKWP1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1078573
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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