A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6339722



Internal ID20997275
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 StatusM
Merged Variantsdgv4109n223
Supporting Variantsnssv18204704
Samples
Known GenesCFC1, CFC1B, LOC646743, POTEJ, TISP43
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6339722
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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