A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv968975



Internal ID18604203
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:111729420..111730920hg38UCSC Ensembl
Innerchr5:111065117..111066617hg19UCSC Ensembl
Innerchr5:111093016..111094516hg18UCSC Ensembl
Cytoband5q22.1
Allele length
AssemblyAllele length
hg381501
hg191501
hg181501
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2371937, nssv2371933, nssv2371931, nssv2371938, nssv2371936, nssv2371930, nssv2371929, nssv2371935, nssv2371932, nssv2371934
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesNREP, STARD4-AS1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv968975
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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