A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv970533



Internal ID18605755
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:74916326..74950172hg38UCSC Ensembl
Innerchr7:74332414..74365051hg19UCSC Ensembl
Innerchr7:73970350..74002987hg18UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg3833847
hg1932638
hg1832638
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2463151, nssv2463144, nssv2463153, nssv2463152, nssv2463148, nssv2463147, nssv2463150, nssv2463146, nssv2463149, nssv2463145
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesPMS2P5
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv970533
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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