A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1072982



Internal ID19324913
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:144497818..144498020hg38UCSC Ensembl
chr2:145255385..145255587hg19UCSC Ensembl
Cytoband2q22.3
Allele length
AssemblyAllele length
hg38203
hg19203
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3765801
SamplesKWP1
Known GenesZEB2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1072982
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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