A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15749738



Internal ID21391713
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:30506279..30507457hg38UCSC Ensembl
chr16:30517600..30518778hg19UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg381179
hg191179
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4432336
Supporting Variants
SamplesSMI018
Known GenesITGAL
MethodSequencing
Analysis
Platform
Comments
ReferenceDeng_et_al_2019
Pubmed ID31718558
Accession Number(s)nssv15749738
Frequency
Sample Size15
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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