A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18233735



Internal ID20800775
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:143576701..143641500hg38UCSC Ensembl
chr8:144658871..144723670hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg3864800
hg1964800
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6432687
Supporting Variants
Samples
Known GenesEEF1D, NAPRT1, PYCRL, TIGD5, TSTA3, ZNF623
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18233735
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00011


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