A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1072405



Internal ID18970324
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:32999394..33002232hg38UCSC Ensembl
chr2:33224461..33227299hg19UCSC Ensembl
Cytoband2p22.3
Allele length
AssemblyAllele length
hg382839
hg192839
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3763465
SamplesKWP1
Known GenesLTBP1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1072405
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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