A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1072086



Internal ID19322335
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:238591358..238593459hg38UCSC Ensembl
chr2:239499999..239502100hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg382102
hg192102
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3763245
SamplesKWP1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1072086
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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