A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4007467



Internal ID22069098
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:231399838..231406910hg38UCSC Ensembl
Outerchr1:231399366..231414693hg38UCSC Ensembl
Innerchr1:231535584..231542656hg19UCSC Ensembl
Outerchr1:231535112..231550439hg19UCSC Ensembl
Cytoband1q42.2
Allele length
AssemblyAllele length
hg3815328
hg1915328
Variant TypeCNV deletion
Copy Number0
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1154866
Supporting Variants
Samples
Known GenesEGLN1
MethodSNP array
AnalysisDefault settings
Platform
Comments
ReferenceLou_et_al_2014
Pubmed ID25026903
Accession Number(s)nssv4007467
Frequency
Sample Size131
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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