A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1073008



Internal ID19320495
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:206084775..206086576hg38UCSC Ensembl
chr2:206949499..206951300hg19UCSC Ensembl
Cytoband2q33.3
Allele length
AssemblyAllele length
hg381802
hg191802
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3765568
SamplesKWP1
Known GenesINO80D
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1073008
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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