A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv980731



Internal ID18615931
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:139329322..139330545hg38UCSC Ensembl
Innerchr5:138665011..138666234hg19UCSC Ensembl
Innerchr5:138692910..138694133hg18UCSC Ensembl
Cytoband5q31.2
Allele length
AssemblyAllele length
hg381224
hg191224
hg181224
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2378802, nssv2378803, nssv2378799, nssv2378807, nssv2378806, nssv2378800, nssv2378804, nssv2378798, nssv2378805, nssv2378801
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesMATR3
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv980731
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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