A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6329846



Internal ID20862999
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:185734301..185734800hg38UCSC Ensembl
chr1:185703433..185703932hg19UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg38500
hg19500
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18054520
Samples
Known GenesHMCN1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6329846
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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