A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2998190



Internal ID17291142
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:155279610..155304509hg38UCSC Ensembl
Outerchr1:155249401..155274300hg19UCSC Ensembl
Cytoband1q22
Allele length
AssemblyAllele length
hg3824900
hg1924900
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv952214
Supporting Variants
SamplesBILGI_BIOE
Known GenesHCN3, PKLR
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv2998190
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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