A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6331161



Internal ID20864322
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 StatusM
Merged Variants
Supporting Variantsnssv18204472
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)nsv6331161
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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