A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6316712



Internal ID20849793
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:166944138..166945413hg38UCSC Ensembl
chr1:166913375..166914650hg19UCSC Ensembl
Cytoband1q24.1
Allele length
AssemblyAllele length
hg381276
hg191276
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18053107
Samples
Known GenesILDR2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6316712
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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