A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv973006



Internal ID18261535
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:6405943..6411731hg38UCSC Ensembl
Innerchr12:6515109..6520897hg19UCSC Ensembl
Innerchr12:6385370..6391158hg18UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg385789
hg195789
hg185789
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1911418, nssv1911420, nssv1911425, nssv1911422, nssv1911423, nssv1911417, nssv1911421, nssv1911424, nssv1911419, nssv1911416
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known Genes
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv973006
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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