A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1071990



Internal ID18970991
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:46542560..46543561hg38UCSC Ensembl
chr2:46769699..46770700hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg381002
hg191002
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3770875
SamplesKWP1
Known GenesRHOQ
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1071990
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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