A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13679380



Internal ID21201237
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:239068849..239068946hg38UCSC Ensembl
chr2:239990545..239990642hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3898
hg1998
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2806166
Supporting Variants
Samples
Known GenesHDAC4, MIR4440
MethodSequencing
Analysis
Platform
Comments
ReferenceHuddleston_et_al_2016
Pubmed ID27895111
Accession Number(s)nssv13679380
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequency1


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