A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6616738



Internal ID20989809
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:6793901..7334700hg38UCSC Ensembl
chr7:6833532..7374331hg19UCSC Ensembl
Cytoband7p21.3
Allele length
AssemblyAllele length
hg38540800
hg19540800
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6557n223
Supporting Variantsnssv18227419
Samples
Known GenesC1GALT1, CCZ1B, LOC100131257, LOC101927354, RSPH10B, RSPH10B2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6616738
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer