A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18212541



Internal ID20779581
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:57037036..57884522hg38UCSC Ensembl
chr4:57903202..58750688hg19UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg38847487
hg19847487
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6392630
Supporting Variants
Samples
Known GenesIGFBP7, IGFBP7-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18212541
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer