A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv960412



Internal ID18248977
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:10642410..10644582hg38UCSC Ensembl
Innerchr17:10545727..10547899hg19UCSC Ensembl
Innerchr17:10486452..10488624hg18UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg382173
hg192173
hg182173
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2077650, nssv2077647, nssv2077655, nssv2077652, nssv2077648, nssv2077654, nssv2077653, nssv2077651, nssv2077649, nssv2077656
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesMYH3
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv960412
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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