A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6347228



Internal ID21004781
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:175935298..176077914hg38UCSC Ensembl
chr2:176800026..176942642hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg38142617
hg19142617
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18208035
Samples
Known GenesKIAA1715
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6347228
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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