A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1058771



Internal ID19147990
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:35236333..35526596hg38UCSC Ensembl
Innerchr16:34470704..34760967hg19UCSC Ensembl
Innerchr16:34328205..34618468hg18UCSC Ensembl
Cytoband16p11.1
Allele length
AssemblyAllele length
hg38290264
hg19290264
hg18290264
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2962n100
Supporting Variantsnssv3558660, nssv3722606, nssv3722602, nssv3558675, nssv3558657, nssv3558667, nssv3558676, nssv3558673, nssv3722601, nssv3558658, nssv3558663, nssv3558665, nssv3722605, nssv3558661, nssv3558670, nssv3558668, nssv3558664, nssv3558671, nssv3558659, nssv3558678, nssv3722604, nssv3558666, nssv3558655, nssv3558674, nssv3558656, nssv3558662, nssv3722600, nssv3558654, nssv3558672, nssv3558669, nssv3722607, nssv3558677, nssv3722603
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)nsv1058771
Frequency
Sample Size11257
Observed Gain33
Observed Loss0
Observed Complex0
Frequencyn/a


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