A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6139540



Internal ID338727
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:130462700..130546300hg38UCSC Ensembl
chr2:131220273..131303873hg19UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg3883601
hg1983601
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16924100
Samples
Known GenesCFC1B, LOC646743, POTEI, TISP43
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv6139540
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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