A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1072991



Internal ID18973571
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:169853389..169855890hg38UCSC Ensembl
chr2:170709899..170712400hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg382502
hg192502
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3766903
SamplesKWP1
Known GenesUBR3
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1072991
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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