A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1155248



Internal ID22085753
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:16419234..16587041hg38UCSC Ensembl
Outerchr16:16302655..16594426hg38UCSC Ensembl
Innerchr16:16513091..16680898hg19UCSC Ensembl
Outerchr16:16396512..16688283hg19UCSC Ensembl
Cytoband16p13.11
Allele length
AssemblyAllele length
hg38291772
hg19291772
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4011566
Samples
Known GenesLOC100288162, MIR3180-1, MIR3180-2, MIR3180-3, MIR6511A-2, MIR6770-2, NPIPA7, NPIPA8, PKD1P1
MethodSNP array
AnalysisDefault settings
Platform
Comments
ReferenceLou_et_al_2014
Pubmed ID25026903
Accession Number(s)nsv1155248
Frequency
Sample Size131
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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