A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6346639



Internal ID21004192
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:41692743..42151307hg38UCSC Ensembl
chr2:41919883..42378447hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg38458565
hg19458565
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18209183
Samples
Known GenesC2orf91, LOC388942, PKDCC
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6346639
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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