A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2795181



Internal ID21240519
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:50579485..50579541hg38UCSC Ensembl
chr16:50613396..50613452hg19UCSC Ensembl
Cytoband16q12.1
Allele length
AssemblyAllele length
hg3857
hg1957
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv13684150
Samples
Known GenesNKD1
MethodSequencing
Analysis
Platform
Comments
ReferenceHuddleston_et_al_2016
Pubmed ID27895111
Accession Number(s)nsv2795181
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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