A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6603200



Internal ID20976271
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:117812019..118132430hg38UCSC Ensembl
chr7:117452073..117772484hg19UCSC Ensembl
Cytoband7q31.31
Allele length
AssemblyAllele length
hg38320412
hg19320412
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18219767
Samples
Known GenesCTTNBP2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6603200
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