A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv945282



Internal ID18245470
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:212302395..212309390hg38UCSC Ensembl
Innerchr1:212475737..212482732hg19UCSC Ensembl
Innerchr1:210542360..210549355hg18UCSC Ensembl
Cytoband1q32.3
Allele length
AssemblyAllele length
hg386996
hg196996
hg186996
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1817782, nssv1817777, nssv1817775, nssv1817778, nssv1817779, nssv1817784, nssv1817776, nssv1817780, nssv1817783, nssv1817781
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesPPP2R5A
MethodSequencing
Analysislineage specific fixed duplications
lineage specific fixed expansions
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv945282
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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