A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6514872



Internal ID20888227
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:555586..840590hg38UCSC Ensembl
chr17:458826..743830hg19UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg38285005
hg19285005
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2963n223
Supporting Variantsnssv18192388
Samples
Known GenesDBIL5P, FAM57A, GEMIN4, GLOD4, NXN, RNMTL1, VPS53
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6514872
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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