A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946404



Internal ID18246568
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:154155647..154157836hg38UCSC Ensembl
Innerchr1:154128123..154130312hg19UCSC Ensembl
Innerchr1:152394747..152396936hg18UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg382190
hg192190
hg182190
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1799971, nssv1799977, nssv1799973, nssv1799974, nssv1799976, nssv1799972, nssv1799978, nssv1799979, nssv1799970, nssv1799975
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesTPM3
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv946404
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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