A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18212917



Internal ID20779957
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:3426615..4165741hg38UCSC Ensembl
chr4:3428342..4167468hg19UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg38739127
hg19739127
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6366311
Supporting Variants
Samples
Known GenesADRA2C, DOK7, FAM86EP, HGFAC, LINC00955, LOC100133461, LRPAP1, RGS12
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18212917
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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