A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv960410



Internal ID18595661
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:10537259..10538259hg38UCSC Ensembl
Innerchr17:10440576..10441576hg19UCSC Ensembl
Innerchr17:10381301..10382301hg18UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg381001
hg191001
hg181001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2074094, nssv2074092, nssv2074090, nssv2074091, nssv2074093, nssv2074089, nssv2074096, nssv2074095, nssv2074097, nssv2074088
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesMYH2
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv960410
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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