A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6344457



Internal ID21002010
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:174404701..174406200hg38UCSC Ensembl
chr2:175269429..175270928hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg381500
hg191500
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18207426
Samples
Known GenesSCRN3
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6344457
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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