A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv973127



Internal ID18608342
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:119954032..119964849hg38UCSC Ensembl
Innerchr12:120391836..120402653hg19UCSC Ensembl
Innerchr12:118876219..118887036hg18UCSC Ensembl
Cytoband12q24.23
Allele length
AssemblyAllele length
hg3810818
hg1910818
hg1810818
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1946184, nssv1946183, nssv1946176, nssv1946179, nssv1946182, nssv1946175, nssv1946177, nssv1946181, nssv1946178, nssv1946180
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)nsv973127
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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