A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1078611



Internal ID19318554
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:105956990..105957237hg38UCSC Ensembl
chr1:106499612..106499859hg19UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg38248
hg19248
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3770205
SamplesKWP1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1078611
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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