A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv974862



Internal ID18263385
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:15369624..15371340hg38UCSC Ensembl
Innerchr16:15463481..15465197hg19UCSC Ensembl
Innerchr16:15370982..15372698hg18UCSC Ensembl
Cytoband16p13.11
Allele length
AssemblyAllele length
hg381717
hg191717
hg181717
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2629964, nssv2629967, nssv2629963, nssv2629968, nssv2629966, nssv2629969, nssv2629970, nssv2629965, nssv2629961, nssv2629962
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesNPIPA5
MethodSequencing
Analysislineage specific fixed expansions
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv974862
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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