A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13690261



Internal ID21212114
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:45414957..45415212hg38UCSC Ensembl
chr2:45642096..45642351hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg38256
hg19256
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2807502
Supporting Variants
Samples
Known GenesSRBD1
MethodSequencing
Analysis
Platform
Comments
ReferenceHuddleston_et_al_2016
Pubmed ID27895111
Accession Number(s)nssv13690261
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.689655


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