A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5948007



Internal ID22723499
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:68978274..68978274hg38UCSC Ensembl
chr2:69205406..69205406hg19UCSC Ensembl
Cytoband2p13.3
Allele length
AssemblyAllele length
hg3868
hg1968
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17391094
Samples
Known GenesGKN1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5948007
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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