A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv984375



Internal ID18272876
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:15103845..15104958hg38UCSC Ensembl
Innerchr16:15197702..15198815hg19UCSC Ensembl
Innerchr16:15105203..15106316hg18UCSC Ensembl
Cytoband16p13.11
Allele length
AssemblyAllele length
hg381114
hg191114
hg181114
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2629289, nssv2629288, nssv2629290, nssv2629284, nssv2629283, nssv2629287, nssv2629285, nssv2629292, nssv2629286, nssv2629291
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesPDXDC1
MethodSequencing
Analysislineage specific fixed expansions
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv984375
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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