A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6355557



Internal ID21013110
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:218287541..218291547hg38UCSC Ensembl
chr2:219152264..219156270hg19UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg384007
hg194007
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18085885
Samples
Known GenesPNKD, TMBIM1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6355557
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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