A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946533



Internal ID18246697
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:182388220..182388852hg38UCSC Ensembl
Innerchr1:182357355..182357987hg19UCSC Ensembl
Innerchr1:180623978..180624610hg18UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg38633
hg19633
hg18633
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1808799, nssv1808803, nssv1808807, nssv1808805, nssv1808802, nssv1808801, nssv1808798, nssv1808804, nssv1808806, nssv1808800
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesGLUL
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv946533
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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