A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1071659



Internal ID18973624
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:237543056..237545257hg38UCSC Ensembl
chr2:238451699..238453900hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg382202
hg192202
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3770437
SamplesKWP1
Known GenesMLPH
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1071659
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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