A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18227712



Internal ID20794752
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:105542297..105570987hg38UCSC Ensembl
chr7:105182744..105211434hg19UCSC Ensembl
Cytoband7q22.3
Allele length
AssemblyAllele length
hg3828691
hg1928691
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6619212
Supporting Variants
Samples
Known GenesEFCAB10, RINT1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18227712
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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