A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6398530



Internal ID21056083
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:62307838..62314420hg38UCSC Ensembl
chr5:61603665..61610247hg19UCSC Ensembl
Cytoband5q12.1
Allele length
AssemblyAllele length
hg386583
hg196583
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18132484
Samples
Known GenesKIF2A
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6398530
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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