A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18209527



Internal ID20776567
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:110494660..110898741hg38UCSC Ensembl
chr4:111415816..111819897hg19UCSC Ensembl
Cytoband4q25
Allele length
AssemblyAllele length
hg38404082
hg19404082
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6380669
Supporting Variants
Samples
Known GenesENPEP, PITX2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18209527
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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