A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv983333



Internal ID18618527
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:56505394..56513075hg38UCSC Ensembl
Innerchr12:56899178..56906859hg19UCSC Ensembl
Innerchr12:55185445..55193126hg18UCSC Ensembl
Cytoband12q13.2
Allele length
AssemblyAllele length
hg387682
hg197682
hg187682
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1933018, nssv1933013, nssv1933017, nssv1933012, nssv1933016, nssv1933010, nssv1933015, nssv1933014, nssv1933019, nssv1933011
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)nsv983333
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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