A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6348707



Internal ID21006260
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:147969001..147970400hg38UCSC Ensembl
chr2:148726570..148727969hg19UCSC Ensembl
Cytoband2q23.1
Allele length
AssemblyAllele length
hg381400
hg191400
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18078778
Samples
Known GenesORC4
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6348707
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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