A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv983355



Internal ID18618549
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:94423572..94424572hg38UCSC Ensembl
Innerchr12:94817348..94818348hg19UCSC Ensembl
Innerchr12:93341479..93342479hg18UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg381001
hg191001
hg181001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1942204, nssv1942197, nssv1942200, nssv1942203, nssv1942199, nssv1942198, nssv1942201, nssv1942196, nssv1942195, nssv1942202
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesCCDC41
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv983355
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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