A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1056693



Internal ID19145912
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:35237438..35530833hg38UCSC Ensembl
Innerchr16:34471809..34765204hg19UCSC Ensembl
Innerchr16:34329310..34622705hg18UCSC Ensembl
Cytoband16p11.1
Allele length
AssemblyAllele length
hg38293396
hg19293396
hg18293396
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2962n100
Supporting Variantsnssv3558819, nssv3558818
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)nsv1056693
Frequency
Sample Size11257
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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