A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3556956



Internal ID18508551
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 StatusS
Merged Variantsnsv1052260
Supporting Variants
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)nssv3556956
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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