A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1052734



Internal ID18795265
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:14741198..15022388hg38UCSC Ensembl
Innerchr16:14835055..15116245hg19UCSC Ensembl
Innerchr16:14742556..15023746hg18UCSC Ensembl
Cytoband16p13.11
Allele length
AssemblyAllele length
hg38281191
hg19281191
hg18281191
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2742n100
Supporting Variantsnssv3557532, nssv3557535, nssv3557534, nssv3718901, nssv3557533
Samples
Known GenesABCC6P2, LOC100288162, MIR1972-1, MIR1972-2, MIR3179-1, MIR3179-2, MIR3179-3, MIR3180-1, MIR3180-2, MIR3180-3, MIR6511A-2, MIR6770-2, NOMO1, NPIPA1, NPIPA2, NPIPA3, PDXDC1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1052734
Frequency
Sample Size29084
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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