A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18147477



Internal ID20714517
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:73238257..73244803hg38UCSC Ensembl
chr6:73947980..73954526hg19UCSC Ensembl
Cytoband6q13
Allele length
AssemblyAllele length
hg386547
hg196547
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6395830
Supporting Variants
Samples
Known GenesKHDC1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18147477
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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