A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1071145



Internal ID19324315
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:50073381..50075082hg38UCSC Ensembl
chr14:50540099..50541800hg19UCSC Ensembl
Cytoband14q21.3
Allele length
AssemblyAllele length
hg381702
hg191702
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3762592
SamplesKWP1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1071145
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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