A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6347384



Internal ID21004937
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:210021201..210022600hg38UCSC Ensembl
chr2:210885925..210887324hg19UCSC Ensembl
Cytoband2q34
Allele length
AssemblyAllele length
hg381400
hg191400
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18085100
Samples
Known GenesKANSL1L, RPE
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6347384
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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