A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv979030



Internal ID18267547
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:84776069..84781587hg38UCSC Ensembl
Innerchr2:85003193..85008711hg19UCSC Ensembl
Innerchr2:84856704..84862222hg18UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg385519
hg195519
hg185519
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2179836, nssv2179831, nssv2179834, nssv2179835, nssv2179830, nssv2179837, nssv2179833, nssv2179832, nssv2179829, nssv2179828
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesDNAH6
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv979030
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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