A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv947048



Internal ID18247212
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:206206782..206207371hg38UCSC Ensembl
Innerchr1:206133959..206134548hg19UCSC Ensembl
Innerchr1:204300582..204301171hg18UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg38590
hg19590
hg18590
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2605184, nssv2605183, nssv2605191, nssv2605182, nssv2605189, nssv2605186, nssv2605185, nssv2605188, nssv2605187, nssv2605190
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known Genes
MethodSequencing
Analysislineage specific fixed expansions
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv947048
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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