A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3772071



Internal ID18964063
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:54625626..54630327hg38UCSC Ensembl
chr1:55091299..55096000hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg384702
hg194702
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1076457
Supporting Variants
SamplesKWP1
Known GenesACOT11
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nssv3772071
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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