A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6512249



Internal ID20885581
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:4557603..4564907hg38UCSC Ensembl
chr17:4460898..4468202hg19UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg387305
hg197305
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18035913
Samples
Known GenesGGT6
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6512249
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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