A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6512176



Internal ID20885507
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:1792597..1835882hg38UCSC Ensembl
chr17:1695891..1739176hg19UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg3843286
hg1943286
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2972n223
Supporting Variantsnssv18197097
Samples
Known GenesRPA1, SMYD4
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6512176
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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