A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv976574



Internal ID18611780
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:10770186..10770899hg38UCSC Ensembl
Innerchr12:10922785..10923498hg19UCSC Ensembl
Innerchr12:10814052..10814765hg18UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg38714
hg19714
hg18714
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1916307, nssv1916301, nssv1916309, nssv1916306, nssv1916308, nssv1916304, nssv1916305, nssv1916303, nssv1916310, nssv1916302
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)nsv976574
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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