A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv978130



Internal ID18266649
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:30188776..30195429hg38UCSC Ensembl
Innerchr16:30200097..30206750hg19UCSC Ensembl
Innerchr16:30107598..30114251hg18UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg386654
hg196654
hg186654
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2056163, nssv2056156, nssv2056160, nssv2056162, nssv2056155, nssv2056161, nssv2056157, nssv2056159, nssv2056158, nssv2056154
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesBOLA2, BOLA2B, CORO1A, LOC606724, SLX1A, SLX1A-SULT1A3, SLX1B, SLX1B-SULT1A4
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv978130
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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