A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6530729



Internal ID20904090
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:76582001..76584000hg38UCSC Ensembl
chr17:74578083..74580082hg19UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg382000
hg192000
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18038240
Samples
Known GenesST6GALNAC2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6530729
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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