A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3000461



Internal ID17293413
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:247433744..247433926hg38UCSC Ensembl
Outerchr1:247597046..247597228hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38183
hg19183
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv956594
Supporting Variants
SamplesBILGI_BIOE
Known GenesNLRP3
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv3000461
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer