A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18147447



Internal ID20714487
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:72750345..72764040hg38UCSC Ensembl
chr6:73460068..73473763hg19UCSC Ensembl
Cytoband6q13
Allele length
AssemblyAllele length
hg3813696
hg1913696
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6398888
Supporting Variants
Samples
Known GenesKCNQ5
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18147447
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00015


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