A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1052260



Internal ID18794791
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:2074546..2629655hg38UCSC Ensembl
Innerchr16:2124547..2679656hg19UCSC Ensembl
Innerchr16:2064548..2619657hg18UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg38555110
hg19555110
hg18555110
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3556956
Samples
Known GenesABCA17P, ABCA3, AMDHD2, ATP6V0C, BRICD5, C16orf59, CASKIN1, CCNF, CEMP1, DNASE1L2, E4F1, ECI1, LOC652276, MIR1225, MIR3178, MIR3180-5, MIR3677, MIR4516, MIR4717, MIR6511B-1, MIR6767, MIR6768, MIR940, MLST8, NTN3, PDPK1, PGP, PKD1, RAB26, RNPS1, SNORD60, TBC1D24, TRAF7, TSC2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1052260
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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