A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2802550



Internal ID21247888
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:6005375..6005375hg38UCSC Ensembl
chr1:6065435..6065435hg19UCSC Ensembl
Cytoband1p36.31
Allele length
AssemblyAllele length
hg3881
hg1981
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv13677005
Samples
Known GenesKCNAB2
MethodSequencing
Analysis
Platform
Comments
ReferenceHuddleston_et_al_2016
Pubmed ID27895111
Accession Number(s)nsv2802550
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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