A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2056162



Internal ID17437798
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 Flag1
Merged StatusS
Merged Variantsnsv978130
Supporting Variants
SamplesHGDP00665
Known GenesBOLA2, BOLA2B, CORO1A, LOC606724, SLX1A, SLX1A-SULT1A3, SLX1B, SLX1B-SULT1A4
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Hsa
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2056162
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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