A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1072097



Internal ID18978978
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:2715935..2716000hg38UCSC Ensembl
chr20:2696581..2696646hg19UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg3866
hg1966
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3772916
SamplesKWP1
Known GenesEBF4
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1072097
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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