A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1061288



Internal ID18803819
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:82146152..83636829hg38UCSC Ensembl
Innerchr16:82179757..83670434hg19UCSC Ensembl
Innerchr16:80737258..82227935hg18UCSC Ensembl
Cytoband16q23.3
Allele length
AssemblyAllele length
hg381490678
hg191490678
hg181490678
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3719084, nssv3559847, nssv3559848
Samples
Known GenesCDH13, MIR3182, MIR8058, MPHOSPH6
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1061288
Frequency
Sample Size29084
Observed Gain2
Observed Loss1
Observed Complex0
Frequencyn/a


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