A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1073980



Internal ID19323673
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:55542901..55543502hg38UCSC Ensembl
chr6:55407699..55408300hg19UCSC Ensembl
Cytoband6p12.1
Allele length
AssemblyAllele length
hg38602
hg19602
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3769051
SamplesKWP1
Known GenesHMGCLL1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1073980
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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