A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1070235



Internal ID19320253
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:99673562..99673863hg38UCSC Ensembl
chr14:100139899..100140200hg19UCSC Ensembl
Cytoband14q32.2
Allele length
AssemblyAllele length
hg38302
hg19302
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3770831
SamplesKWP1
Known GenesHHIPL1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1070235
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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