A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1044932



Internal ID18787463
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:18545386..18751122hg38UCSC Ensembl
Innerchr16:18556708..18762444hg19UCSC Ensembl
Innerchr16:18464209..18669945hg18UCSC Ensembl
Cytoband16p12.3
Allele length
AssemblyAllele length
hg38205737
hg19205737
hg18205737
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2785n100
Supporting Variantsnssv3558136, nssv3558135, nssv3558134, nssv3558137, nssv3716929
Samples
Known GenesABCC6P1, NOMO2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1044932
Frequency
Sample Size29084
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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