A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1048526



Internal ID18791057
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:21582301..21828019hg38UCSC Ensembl
Innerchr16:21593622..21839340hg19UCSC Ensembl
Innerchr16:21501123..21746841hg18UCSC Ensembl
Cytoband16p12.1
Allele length
AssemblyAllele length
hg38245719
hg19245719
hg18245719
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2807n100
Supporting Variantsnssv3548143
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)nsv1048526
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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