A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1064887



Internal ID19154106
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:35232188..35521183hg38UCSC Ensembl
Innerchr16:34466559..34755554hg19UCSC Ensembl
Innerchr16:34324060..34613055hg18UCSC Ensembl
Cytoband16p11.1
Allele length
AssemblyAllele length
hg38288996
hg19288996
hg18288996
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2962n100
Supporting Variantsnssv3556255, nssv3722302, nssv3722305, nssv3722298, nssv3722306, nssv3722300, nssv3556244, nssv3556249, nssv3722291, nssv3556258, nssv3556248, nssv3556260, nssv3722304, nssv3556253, nssv3556251, nssv3556242, nssv3556261, nssv3556259, nssv3722297, nssv3556254, nssv3556250, nssv3556247, nssv3722293, nssv3556257, nssv3722301, nssv3722295, nssv3722294, nssv3556246, nssv3722303, nssv3556243, nssv3556245, nssv3556252, nssv3722292, nssv3722299, nssv3722296, nssv3556256
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)nsv1064887
Frequency
Sample Size11257
Observed Gain36
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer