A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13704020



Internal ID21225828
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:189841824..189841824hg38UCSC Ensembl
chr2:190706550..190706550hg19UCSC Ensembl
Cytoband2q32.2
Allele length
AssemblyAllele length
hg3888
hg1988
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2806044
Supporting Variants
Samples
Known GenesPMS1
MethodSequencing
Analysis
Platform
Comments
ReferenceHuddleston_et_al_2016
Pubmed ID27895111
Accession Number(s)nssv13704020
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequency1


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