A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1059030



Internal ID18801561
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:88711587..88886496hg38UCSC Ensembl
Innerchr16:88777995..88952904hg19UCSC Ensembl
Innerchr16:87305496..87480405hg18UCSC Ensembl
Cytoband16q24.3
Allele length
AssemblyAllele length
hg38174910
hg19174910
hg18174910
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3065n100
Supporting Variantsnssv3559995
Samples
Known GenesAPRT, CBFA2T3, CDT1, CTU2, GALNS, LOC100289580, MIR4722, PABPN1L, PIEZO1, TRAPPC2L
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1059030
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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