A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2805654



Internal ID21250992
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:190690013..190690013hg38UCSC Ensembl
chr2:191554739..191554739hg19UCSC Ensembl
Cytoband2q32.2
Allele length
AssemblyAllele length
hg38118
hg19118
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv13690353
Samples
Known GenesNAB1
MethodSequencing
Analysis
Platform
Comments
ReferenceHuddleston_et_al_2016
Pubmed ID27895111
Accession Number(s)nsv2805654
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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