A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18200657



Internal ID20767697
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:244298068..244374061hg38UCSC Ensembl
chr1:244461370..244537363hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3875994
hg1975994
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6326792
Supporting Variants
Samples
Known GenesC1orf100
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18200657
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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