A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv976315



Internal ID18611521
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:21159112..21166060hg38UCSC Ensembl
Innerchr14:21627271..21634219hg19UCSC Ensembl
Innerchr14:20697111..20704059hg18UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg386949
hg196949
hg186949
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1978420, nssv1978418, nssv1978416, nssv1978414, nssv1978415, nssv1978419, nssv1978411, nssv1978413, nssv1978417, nssv1978412
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known Genes
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv976315
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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