A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1040440



Internal ID18782971
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:1811739..1866102hg38UCSC Ensembl
Innerchr16:1861740..1916103hg19UCSC Ensembl
Innerchr16:1801741..1856104hg18UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg3854364
hg1954364
hg1854364
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3556955
Samples
Known GenesFAHD1, HAGH, MEIOB
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1040440
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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