A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv976593



Internal ID18611799
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:31947519..31949360hg38UCSC Ensembl
Innerchr12:32100453..32102294hg19UCSC Ensembl
Innerchr12:31991720..31993561hg18UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg381842
hg191842
hg181842
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1923992, nssv1923994, nssv1923990, nssv1923989, nssv1923998, nssv1923997, nssv1923991, nssv1923996, nssv1923993, nssv1923995
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known Genes
MethodSequencing
Analysislineage specific fixed duplications
lineage specific fixed expansions
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv976593
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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