A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6316473



Internal ID20849552
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:55215573..55220324hg38UCSC Ensembl
chr1:55681246..55685997hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg384752
hg194752
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18062208
Samples
Known GenesLOC100507634
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6316473
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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