A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv952681



Internal ID17301555
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:56328589..56355788hg38UCSC Ensembl
Outerchr16:56362501..56389700hg19UCSC Ensembl
Cytoband16q12.2
Allele length
AssemblyAllele length
hg3827200
hg1927200
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3000149
SamplesBILGI_BIOE
Known GenesGNAO1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv952681
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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