A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6532612



Internal ID20905973
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:78897224..78906706hg38UCSC Ensembl
chr17:76893306..76902788hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg389483
hg199483
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18038138
Samples
Known GenesLOC100653515, TIMP2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6532612
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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