A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3745478



Internal ID18697073
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:42659705..43400998hg38UCSC Ensembl
Innerchr6:42627443..43368736hg19UCSC Ensembl
Innerchr6:42735421..43476714hg18UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg38741294
hg19741294
hg18741294
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1017398
Supporting Variants
Samples
Known GenesATP6V0CP3, C6orf226, CNPY3, CRIP3, CUL7, CUL9, DNPH1, GLTSCR1L, GNMT, KLC4, KLHDC3, MEA1, MRPL2, PEX6, PPP2R5D, PRPH2, PTCRA, PTK7, RPL7L1, RRP36, SLC22A7, SRF, TBCC, TTBK1, UBR2, ZNF318
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3745478
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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