A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6342527



Internal ID21000080
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:174405101..174410800hg38UCSC Ensembl
chr2:175269829..175275528hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg385700
hg195700
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4192n223
Supporting Variantsnssv18207429
Samples
Known GenesSCRN3
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6342527
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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