A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6323191



Internal ID20856307
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:44813072..44817960hg38UCSC Ensembl
chr1:45278744..45283632hg19UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg384889
hg194889
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18201346
Samples
Known GenesBTBD19
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6323191
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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