A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1056441



Internal ID19145660
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:31948041..32197459hg38UCSC Ensembl
Innerchr16:31959362..32208780hg19UCSC Ensembl
Innerchr16:31866863..32116281hg18UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg38249419
hg19249419
hg18249419
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2834n100
Supporting Variantsnssv3549164
Samples
Known GenesHERC2P4
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1056441
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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