A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6316162



Internal ID20849240
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:216231232..216443238hg38UCSC Ensembl
chr1:216404574..216616580hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg38212007
hg19212007
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18057293
Samples
Known GenesUSH2A
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6316162
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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