A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2812162



Internal ID21257500
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:65172199..65172199hg38UCSC Ensembl
chr5:64468026..64468026hg19UCSC Ensembl
Cytoband5q12.3
Allele length
AssemblyAllele length
hg381656
hg191656
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv13707217
Samples
Known GenesADAMTS6
MethodSequencing
Analysis
Platform
Comments
ReferenceHuddleston_et_al_2016
Pubmed ID27895111
Accession Number(s)nsv2812162
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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