A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18214759



Internal ID20781799
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:87270276..87313262hg38UCSC Ensembl
chr4:88191428..88234414hg19UCSC Ensembl
Cytoband4q22.1
Allele length
AssemblyAllele length
hg3842987
hg1942987
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6390340
Supporting Variants
Samples
Known GenesHSD17B13, MIR5705
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18214759
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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