A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv962257



Internal ID18597501
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:10543124..10543987hg38UCSC Ensembl
Innerchr17:10446441..10447304hg19UCSC Ensembl
Innerchr17:10387166..10388029hg18UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg38864
hg19864
hg18864
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2074721, nssv2074722, nssv2074719, nssv2074713, nssv2074716, nssv2074718, nssv2074715, nssv2074717, nssv2074720, nssv2074714
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)nsv962257
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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