A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6331910



Internal ID20865078
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:1078485..1749789hg38UCSC Ensembl
chr2:1074171..1753561hg19UCSC Ensembl
Cytoband2p25.3
Allele length
AssemblyAllele length
hg38671305
hg19679391
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18205849
Samples
Known GenesPXDN, SNTG2, TPO
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6331910
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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