A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1057654



Internal ID19146873
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:32369618..33829351hg38UCSC Ensembl
Innerchr16:32380939..33631818hg19UCSC Ensembl
Innerchr16:32288440..33539319hg18UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg381459734
hg191250880
hg181250880
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2871n100
Supporting Variantsnssv3716379, nssv3551104, nssv3551105, nssv3716381, nssv3551103, nssv3551107, nssv3551100, nssv3551101, nssv3716380, nssv3551102, nssv3551106
Samples
Known GenesLOC390705, RNU6-76P, SLC6A10P, TP53TG3, TP53TG3B, TP53TG3C
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1057654
Frequency
Sample Size11257
Observed Gain11
Observed Loss0
Observed Complex0
Frequencyn/a


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