A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6321665



Internal ID20854773
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:56661573..56669076hg38UCSC Ensembl
chr1:57127246..57134749hg19UCSC Ensembl
Cytoband1p32.2
Allele length
AssemblyAllele length
hg387504
hg197504
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18061730
Samples
Known GenesPRKAA2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6321665
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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