A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18201346



Internal ID20768386
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:44813072..44817960hg38UCSC Ensembl
chr1:45278744..45283632hg19UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg384889
hg194889
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6323191
Supporting Variants
Samples
Known GenesBTBD19
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18201346
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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