A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1071455



Internal ID19316857
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:36947636..36950537hg38UCSC Ensembl
chr18:34527599..34530500hg19UCSC Ensembl
Cytoband18q12.2
Allele length
AssemblyAllele length
hg382902
hg192902
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3770089
SamplesKWP1
Known GenesKIAA1328
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1071455
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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