A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18147515



Internal ID20714555
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:73630001..73633000hg38UCSC Ensembl
chr6:74339724..74342723hg19UCSC Ensembl
Cytoband6q13
Allele length
AssemblyAllele length
hg383000
hg193000
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6402027
Supporting Variants
Samples
Known GenesSLC17A5
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18147515
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00093


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