A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv960051



Internal ID18595304
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:10399799..10401612hg38UCSC Ensembl
Innerchr17:10303116..10304929hg19UCSC Ensembl
Innerchr17:10243841..10245654hg18UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg381814
hg191814
hg181814
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2075447, nssv2075443, nssv2075444, nssv2075450, nssv2075448, nssv2075451, nssv2075446, nssv2075449, nssv2075452, nssv2075445
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesMYH8
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv960051
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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