A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6341378



Internal ID20998931
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:175972551..175974764hg38UCSC Ensembl
chr2:176837279..176839492hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg382214
hg192214
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18082029
Samples
Known GenesKIAA1715
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6341378
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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