A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1071395



Internal ID18973945
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:60698838..60704839hg38UCSC Ensembl
chr17:58776199..58782200hg19UCSC Ensembl
Cytoband17q23.2
Allele length
AssemblyAllele length
hg386002
hg196002
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3768347
SamplesKWP1
Known GenesBCAS3
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1071395
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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