A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1057748



Internal ID18800279
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:36121722..36265379hg38UCSC Ensembl
Innerchr17:34449108..34629684hg19UCSC Ensembl
Innerchr17:31473221..31653797hg18UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg38143658
hg19180577
hg18180577
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3144n100
Supporting Variantsnssv3720849, nssv3562465, nssv3562466, nssv3562463, nssv3562462, nssv3562464, nssv3562467
Samples
Known GenesCCL3L1, CCL3L3, CCL4L1, CCL4L2, TBC1D3B, TBC1D3H
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1057748
Frequency
Sample Size29084
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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