A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1063002



Internal ID18805533
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:36102943..36215877hg38UCSC Ensembl
Innerchr17:34430336..34543331hg19UCSC Ensembl
Innerchr17:31454449..31567444hg18UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg38112935
hg19112996
hg18112996
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3147n100
Supporting Variantsnssv3561146, nssv3561148, nssv3561145, nssv3561147, nssv3561144
Samples
Known GenesCCL3L1, CCL3L3, CCL4, CCL4L1, CCL4L2, TBC1D3B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1063002
Frequency
Sample Size29084
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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