A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6336930



Internal ID20994483
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:70054101..70065200hg38UCSC Ensembl
chr2:70281233..70292332hg19UCSC Ensembl
Cytoband2p13.3
Allele length
AssemblyAllele length
hg3811100
hg1911100
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18088915
Samples
Known GenesPCBP1-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6336930
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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