A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv977478



Internal ID18265998
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:66919373..66920523hg38UCSC Ensembl
Innerchr14:67386090..67387240hg19UCSC Ensembl
Innerchr14:66455843..66456993hg18UCSC Ensembl
Cytoband14q23.3
Allele length
AssemblyAllele length
hg381151
hg191151
hg181151
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1990378, nssv1990384, nssv1990381, nssv1990379, nssv1990376, nssv1990380, nssv1990385, nssv1990377, nssv1990383, nssv1990382
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesGPHN
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv977478
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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