A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1071100



Internal ID19318332
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:49792163..49792664hg38UCSC Ensembl
chr13:50366299..50366800hg19UCSC Ensembl
Cytoband13q14.2
Allele length
AssemblyAllele length
hg38502
hg19502
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3767839
SamplesKWP1
Known GenesKPNA3
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1071100
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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