A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6342595



Internal ID21000148
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:9510507..9520771hg38UCSC Ensembl
chr2:9650636..9660900hg19UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg3810265
hg1910265
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18092596
Samples
Known GenesADAM17
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6342595
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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