A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6347601



Internal ID21005154
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:205250301..205257100hg38UCSC Ensembl
chr2:206115025..206121824hg19UCSC Ensembl
Cytoband2q33.3
Allele length
AssemblyAllele length
hg386800
hg196800
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4265n223
Supporting Variantsnssv18082336
Samples
Known GenesPARD3B
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6347601
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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