A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18204472



Internal ID20771512
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:788701..1028500hg38UCSC Ensembl
chr1:724081..963880hg19UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg38239800
hg19239800
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6331161
Supporting Variants
Samples
Known GenesAGRN, C1orf170, FAM41C, FAM87B, HES4, ISG15, KLHL17, LINC00115, LINC01128, LOC100130417, NOC2L, PLEKHN1, SAMD11
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18204472
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.03636


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