A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1064127



Internal ID19153346
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:32102349..33829351hg38UCSC Ensembl
Innerchr16:32113670..33631818hg19UCSC Ensembl
Innerchr16:32021171..33539319hg18UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg381727003
hg191518149
hg181518149
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2844n100
Supporting Variantsnssv3550266, nssv3550269, nssv3716261, nssv3550268, nssv3550267
Samples
Known GenesHERC2P4, LOC390705, RNU6-76P, SLC6A10P, TP53TG3, TP53TG3B, TP53TG3C, TP53TG3D
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1064127
Frequency
Sample Size11257
Observed Gain2
Observed Loss3
Observed Complex0
Frequencyn/a


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