A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1071152



Internal ID19318290
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:64971781..64972582hg38UCSC Ensembl
chr14:65438499..65439300hg19UCSC Ensembl
Cytoband14q23.3
Allele length
AssemblyAllele length
hg38802
hg19802
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3763984
SamplesKWP1
Known GenesCHURC1-FNTB, RAB15
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1071152
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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