A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3768056



Internal ID18967067
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 StatusS
Merged Variantsnsv1077820
Supporting Variants
SamplesKWP1
Known GenesEPS15
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nssv3768056
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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