A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv975488



Internal ID18610696
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:51711925..51714888hg38UCSC Ensembl
Innerchr12:52105709..52108672hg19UCSC Ensembl
Innerchr12:50391976..50394939hg18UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg382964
hg192964
hg182964
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1930109, nssv1930100, nssv1930104, nssv1930107, nssv1930108, nssv1930106, nssv1930101, nssv1930103, nssv1930102, nssv1930105
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesSCN8A
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv975488
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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