A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13684549



Internal ID21206411
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:195740599..195740664hg38UCSC Ensembl
chr2:196605323..196605388hg19UCSC Ensembl
Cytoband2q32.3
Allele length
AssemblyAllele length
hg3866
hg1966
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2806064
Supporting Variants
Samples
Known GenesDNAH7
MethodSequencing
Analysis
Platform
Comments
ReferenceHuddleston_et_al_2016
Pubmed ID27895111
Accession Number(s)nssv13684549
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.078125


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