A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6318806



Internal ID20851898
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:179562355..179566373hg38UCSC Ensembl
chr1:179531490..179535508hg19UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg384019
hg194019
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18053985
Samples
Known GenesNPHS2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6318806
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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