A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv974749



Internal ID18609958
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:3365238..3372782hg38UCSC Ensembl
Innerchr16:3415238..3422782hg19UCSC Ensembl
Innerchr16:3355239..3362783hg18UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg387545
hg197545
hg187545
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2042008, nssv2042014, nssv2042013, nssv2042010, nssv2042005, nssv2042009, nssv2042007, nssv2042006, nssv2042012, nssv2042011
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesMTRNR2L4
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv974749
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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