A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1062008



Internal ID18804539
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:27181274..27228193hg38UCSC Ensembl
Innerchr16:27192595..27239514hg19UCSC Ensembl
Innerchr16:27100096..27147015hg18UCSC Ensembl
Cytoband16p12.1
Allele length
AssemblyAllele length
hg3846920
hg1946920
hg1846920
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2828n100
Supporting Variantsnssv3549137
Samples
Known GenesKDM8, NSMCE1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1062008
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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