A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18199943



Internal ID20766983
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:212035414..212036860hg38UCSC Ensembl
chr1:212208756..212210202hg19UCSC Ensembl
Cytoband1q32.3
Allele length
AssemblyAllele length
hg381447
hg191447
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6323962
Supporting Variants
Samples
Known GenesDTL, INTS7
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18199943
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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