A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18227057



Internal ID20794097
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:6917582..7304563hg38UCSC Ensembl
chr7:6957213..7344194hg19UCSC Ensembl
Cytoband7p21.3
Allele length
AssemblyAllele length
hg38386982
hg19386982
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6610960
Supporting Variants
Samples
Known GenesC1GALT1, LOC100131257, LOC101927354
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18227057
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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