A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13684021



Internal ID21205876
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:104947175..104947175hg38UCSC Ensembl
chr2:105563633..105563633hg19UCSC Ensembl
Cytoband2q12.1
Allele length
AssemblyAllele length
hg38112
hg19112
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2804669
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceHuddleston_et_al_2016
Pubmed ID27895111
Accession Number(s)nssv13684021
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.543478


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