A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv975470



Internal ID18263992
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:31077366..31107608hg38UCSC Ensembl
Innerchr12:31230300..31260542hg19UCSC Ensembl
Innerchr12:31121567..31151809hg18UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg3830243
hg1930243
hg1830243
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1922558, nssv1922559, nssv1922557, nssv1922556, nssv1922555, nssv1922561, nssv1922563, nssv1922560, nssv1922564, nssv1922562
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesDDX11
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv975470
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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