A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv977106



Internal ID18612312
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:5077269..5162688hg38UCSC Ensembl
Innerchr16:5127270..5212689hg19UCSC Ensembl
Innerchr16:5067271..5152690hg18UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg3885420
hg1985420
hg1885420
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2041260, nssv2041255, nssv2041259, nssv2041257, nssv2041261, nssv2041264, nssv2041258, nssv2041262, nssv2041256, nssv2041263
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesALG1, FAM86A
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv977106
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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