A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1069380



Internal ID19322732
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:232287443..232287708hg38UCSC Ensembl
chr1:232423189..232423454hg19UCSC Ensembl
Cytoband1q42.2
Allele length
AssemblyAllele length
hg38266
hg19266
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3765996
SamplesKWP1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1069380
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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