A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13707719



Internal ID21229512
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:191398204..191398378hg38UCSC Ensembl
chr2:192262930..192263104hg19UCSC Ensembl
Cytoband2q32.3
Allele length
AssemblyAllele length
hg38175
hg19175
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2805857
Supporting Variants
Samples
Known GenesMYO1B
MethodSequencing
Analysis
Platform
Comments
ReferenceHuddleston_et_al_2016
Pubmed ID27895111
Accession Number(s)nssv13707719
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.48


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