A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6318370



Internal ID20851462
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:222528686..222532578hg38UCSC Ensembl
chr1:222702028..222705920hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg383893
hg193893
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18058680
Samples
Known GenesHHIPL2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6318370
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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