A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1064778



Internal ID19153997
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:35224654..35522700hg38UCSC Ensembl
Innerchr16:34459025..34757071hg19UCSC Ensembl
Innerchr16:34316526..34614572hg18UCSC Ensembl
Cytoband16p11.1
Allele length
AssemblyAllele length
hg38298047
hg19298047
hg18298047
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2962n100
Supporting Variantsnssv3722229, nssv3722236, nssv3556069, nssv3556056, nssv3722233, nssv3556077, nssv3556051, nssv3722231, nssv3556060, nssv3722227, nssv3556074, nssv3556067, nssv3556055, nssv3722228, nssv3556054, nssv3556076, nssv3722235, nssv3722230, nssv3556065, nssv3722226, nssv3556068, nssv3556075, nssv3556061, nssv3556072, nssv3556079, nssv3556066, nssv3556052, nssv3556070, nssv3722232, nssv3556071, nssv3556064, nssv3556053, nssv3556059, nssv3556073, nssv3556063, nssv3722234, nssv3556057, nssv3556078, nssv3556062, nssv3556058
Samples
Known GenesLOC100130700, LOC146481, LOC283914
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1064778
Frequency
Sample Size11257
Observed Gain40
Observed Loss0
Observed Complex0
Frequencyn/a


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