A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1062053



Internal ID19151272
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:35224654..35505629hg38UCSC Ensembl
Innerchr16:34459025..34740000hg19UCSC Ensembl
Innerchr16:34316526..34597501hg18UCSC Ensembl
Cytoband16p11.1
Allele length
AssemblyAllele length
hg38280976
hg19280976
hg18280976
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2962n100
Supporting Variantsnssv3722218, nssv3556029, nssv3556033, nssv3556028, nssv3556034, nssv3556030, nssv3556032, nssv3722219, nssv3556031, nssv3556027
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)nsv1062053
Frequency
Sample Size11257
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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