A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv945778



Internal ID18592629
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:13221843..13284263hg38UCSC Ensembl
Innerchr1:13327331..13389874hg19UCSC Ensembl
Innerchr1:13199918..13262461hg18UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg3862421
hg1962544
hg1862544
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1752449, nssv1752441, nssv1752440, nssv1752446, nssv1752442, nssv1752445, nssv1752447, nssv1752448, nssv1752450, nssv1752443
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesPRAMEF22, PRAMEF23, PRAMEF3, PRAMEF5, PRAMEF6, PRAMEF7, PRAMEF8
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv945778
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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