A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1050304



Internal ID18792835
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:21569898..21828019hg38UCSC Ensembl
Innerchr16:21581219..21839340hg19UCSC Ensembl
Innerchr16:21488720..21746841hg18UCSC Ensembl
Cytoband16p12.1
Allele length
AssemblyAllele length
hg38258122
hg19258122
hg18258122
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2807n100
Supporting Variantsnssv3548137
Samples
Known GenesIGSF6, METTL9, OTOA, RRN3P1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1050304
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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