A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18200544



Internal ID20767584
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:212832753..213257197hg38UCSC Ensembl
chr1:213006095..213430540hg19UCSC Ensembl
Cytoband1q32.3
Allele length
AssemblyAllele length
hg38424445
hg19424446
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6329396
Supporting Variants
Samples
Known GenesANGEL2, C1orf227, FLVCR1, FLVCR1-AS1, RPS6KC1, VASH2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18200544
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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