A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv977984



Internal ID18266503
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:56906289..56906789hg38UCSC Ensembl
Innerchr16:56940201..56940701hg19UCSC Ensembl
Innerchr16:55497702..55498202hg18UCSC Ensembl
Cytoband16q13
Allele length
AssemblyAllele length
hg38501
hg19501
hg18501
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2063997, nssv2063992, nssv2063994, nssv2063995, nssv2064000, nssv2063993, nssv2063996, nssv2063991, nssv2063998, nssv2063999
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesSLC12A3
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv977984
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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