A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1042130



Internal ID18784661
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:14954899..15100193hg38UCSC Ensembl
Innerchr16:15048756..15194050hg19UCSC Ensembl
Innerchr16:14956257..15101551hg18UCSC Ensembl
Cytoband16p13.11
Allele length
AssemblyAllele length
hg38145295
hg19145295
hg18145295
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3557794, nssv3718968, nssv3557795, nssv3557793
Samples
Known GenesMIR1972-1, MIR1972-2, NTAN1, PDXDC1, RRN3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1042130
Frequency
Sample Size29084
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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