A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18208235



Internal ID20775275
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:195816702..195964117hg38UCSC Ensembl
chr2:196681426..196828841hg19UCSC Ensembl
Cytoband2q32.3
Allele length
AssemblyAllele length
hg38147416
hg19147416
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6339177
Supporting Variants
Samples
Known GenesDNAH7
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18208235
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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