A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1056518



Internal ID19145737
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:35224654..35511810hg38UCSC Ensembl
Innerchr16:34459025..34746181hg19UCSC Ensembl
Innerchr16:34316526..34603682hg18UCSC Ensembl
Cytoband16p11.1
Allele length
AssemblyAllele length
hg38287157
hg19287157
hg18287157
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2962n100
Supporting Variantsnssv3722220, nssv3722221
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)nsv1056518
Frequency
Sample Size11257
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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