A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv960011



Internal ID18248580
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:29449408..29459985hg38UCSC Ensembl
Innerchr16:29460729..29471306hg19UCSC Ensembl
Innerchr16:29368230..29378807hg18UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg3810578
hg1910578
hg1810578
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2758999, nssv2765467, nssv2764446
SamplesHGDP01284, HGDP00542, HGDP00927
Known GenesBOLA2, BOLA2B, LOC606724, SLX1A, SLX1A-SULT1A3, SLX1B, SLX1B-SULT1A4, SULT1A3, SULT1A4
MethodSequencing
AnalysisHuman CNVs
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv960011
Frequency
Sample Size10
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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