A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18204704



Internal ID20771744
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:130574301..130631300hg38UCSC Ensembl
chr2:131331874..131388873hg19UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg3857000
hg1957000
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6339722
Supporting Variants
Samples
Known GenesCFC1, CFC1B, LOC646743, POTEJ, TISP43
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18204704
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00013


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