A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv978127



Internal ID18613332
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:29380312..29384376hg38UCSC Ensembl
Innerchr16:29391633..29395697hg19UCSC Ensembl
Innerchr16:29299134..29303198hg18UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg384065
hg194065
hg184065
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2637386, nssv2637387, nssv2637393, nssv2637392, nssv2637391, nssv2637389, nssv2637390, nssv2637394, nssv2637395, nssv2637388
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known Genes
MethodSequencing
Analysislineage specific fixed expansions
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv978127
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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