A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1071419



Internal ID19315766
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:83025070..83025654hg38UCSC Ensembl
chr17:80982946..80983530hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg38585
hg19585
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3770151
SamplesKWP1
Known GenesB3GNTL1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1071419
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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