A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18200671



Internal ID20767711
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:244907070..245049188hg38UCSC Ensembl
chr1:245070372..245212490hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38142119
hg19142119
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6330302
Supporting Variants
Samples
Known GenesEFCAB2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18200671
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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