A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv961184



Internal ID18249744
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:14489338..14489838hg38UCSC Ensembl
Innerchr19:14600150..14600650hg19UCSC Ensembl
Innerchr19:14461150..14461650hg18UCSC Ensembl
Cytoband19p13.12
Allele length
AssemblyAllele length
hg38501
hg19501
hg18501
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2135444, nssv2135446, nssv2135448, nssv2135450, nssv2135445, nssv2135449, nssv2135451, nssv2135447, nssv2135452, nssv2135443
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesGIPC1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv961184
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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