A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1068649



Internal ID19316705
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:247433693..247433964hg38UCSC Ensembl
chr1:247596995..247597266hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38272
hg19272
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3771852
SamplesKWP1
Known GenesNLRP3
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1068649
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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