A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6333781



Internal ID20866962
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:56575669..56578867hg38UCSC Ensembl
chr1:57041342..57044540hg19UCSC Ensembl
Cytoband1p32.2
Allele length
AssemblyAllele length
hg383199
hg193199
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18061725
Samples
Known GenesPPAP2B
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6333781
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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