A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18201729



Internal ID20768769
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:1812581..1954068hg38UCSC Ensembl
chr1:1744020..1885507hg19UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg38141488
hg19141488
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6319183
Supporting Variants
Samples
Known GenesCALML6, GNB1, KIAA1751, TMEM52
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18201729
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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