A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1042612



Internal ID18785143
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:4965694..5150514hg38UCSC Ensembl
Innerchr16:5015695..5200515hg19UCSC Ensembl
Innerchr16:4955696..5140516hg18UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg38184821
hg19184821
hg18184821
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3556975
Samples
Known GenesALG1, C16orf89, FAM86A, NAGPA, NAGPA-AS1, SEC14L5
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1042612
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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