A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv976629



Internal ID18265149
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:56711412..56713749hg38UCSC Ensembl
Innerchr12:57105196..57107533hg19UCSC Ensembl
Innerchr12:55391463..55393800hg18UCSC Ensembl
Cytoband12q13.3
Allele length
AssemblyAllele length
hg382338
hg192338
hg182338
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1933741, nssv1933736, nssv1933733, nssv1933738, nssv1933735, nssv1933732, nssv1933734, nssv1933739, nssv1933740, nssv1933737
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesNACA
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv976629
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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