A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1055757



Internal ID19144976
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:35232188..35520345hg38UCSC Ensembl
Innerchr16:34466559..34754716hg19UCSC Ensembl
Innerchr16:34324060..34612217hg18UCSC Ensembl
Cytoband16p11.1
Allele length
AssemblyAllele length
hg38288158
hg19288158
hg18288158
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2962n100
Supporting Variantsnssv3556240, nssv3722289, nssv3556238, nssv3556241, nssv3722290, nssv3556239
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)nsv1055757
Frequency
Sample Size11257
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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