A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946200



Internal ID18593050
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:121346117..121390485hg38UCSC Ensembl
Innerchr1:121087983..121132346hg19UCSC Ensembl
Innerchr1:120789506..120833869hg18UCSC Ensembl
Cytoband1p11.2
Allele length
AssemblyAllele length
hg3844369
hg1944364
hg1844364
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1785561, nssv1785567, nssv1785568, nssv1785560, nssv1785566, nssv1785559, nssv1785563, nssv1785565, nssv1785562, nssv1785564
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesSRGAP2-AS1, SRGAP2D
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv946200
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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