A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6600459



Internal ID20973530
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:77696772..77700070hg38UCSC Ensembl
chr7:77326089..77329387hg19UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg383299
hg193299
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18223594
Samples
Known GenesRSBN1L, RSBN1L-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6600459
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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