A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17402960



Internal ID22460830
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:241034947..241035007hg38UCSC Ensembl
chr2:241974364..241974424hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3861
hg1961
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5906721
Supporting Variants
Samples
Known GenesSNED1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17402960
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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