A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1035438



Internal ID18777969
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:21401070..21828019hg38UCSC Ensembl
Innerchr16:21412391..21839340hg19UCSC Ensembl
Innerchr16:21319892..21746841hg18UCSC Ensembl
Cytoband16p12.1
Allele length
AssemblyAllele length
hg38426950
hg19426950
hg18426950
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2800n100
Supporting Variantsnssv3548062, nssv3548063
Samples
Known GenesIGSF6, LOC100190986, LOC100271836, METTL9, NPIPB3, OTOA, RRN3P1, SLC7A5P2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1035438
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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