A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18085645



Internal ID20652685
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:26067701..26075700hg38UCSC Ensembl
chr2:26290570..26298569hg19UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg388000
hg198000
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6339515
Supporting Variants
Samples
Known GenesRAB10
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18085645
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00015


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