A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1077820



Internal ID18978946
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:51519027..51519628hg38UCSC Ensembl
chr1:51984699..51985300hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg38602
hg19602
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3768056
SamplesKWP1
Known GenesEPS15
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1077820
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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