A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3975376



Internal ID19213028
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:247433947..247434032hg38UCSC Ensembl
Outerchr1:247597249..247597334hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3886
hg1986
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1115071
Supporting Variants
SamplesKWS1
Known GenesNLRP3
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3975376
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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