A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv978150



Internal ID18613355
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:52933306..52936240hg38UCSC Ensembl
Innerchr16:52967218..52970152hg19UCSC Ensembl
Innerchr16:51524719..51527653hg18UCSC Ensembl
Cytoband16q12.2
Allele length
AssemblyAllele length
hg382935
hg192935
hg182935
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2061488, nssv2061489, nssv2061483, nssv2061485, nssv2061480, nssv2061482, nssv2061487, nssv2061486, nssv2061484, nssv2061481
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known Genes
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv978150
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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