A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1071665



Internal ID19324671
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:240818882..240820783hg38UCSC Ensembl
chr2:241758299..241760200hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg381902
hg191902
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3766301
SamplesKWP1
Known GenesKIF1A
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1071665
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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