A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv975500



Internal ID18264022
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:57957269..57968890hg38UCSC Ensembl
Innerchr12:58351052..58362673hg19UCSC Ensembl
Innerchr12:56637319..56648940hg18UCSC Ensembl
Cytoband12q14.1
Allele length
AssemblyAllele length
hg3811622
hg1911622
hg1811622
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1934234, nssv1934229, nssv1934237, nssv1934235, nssv1934231, nssv1934232, nssv1934236, nssv1934228, nssv1934233, nssv1934230
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)nsv975500
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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