A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv945895



Internal ID18592745
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:39767760..39776036hg38UCSC Ensembl
Innerchr1:40233432..40241708hg19UCSC Ensembl
Innerchr1:40006019..40014295hg18UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg388277
hg198277
hg188277
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1760753, nssv1760757, nssv1760759, nssv1760756, nssv1760760, nssv1760754, nssv1760755, nssv1760752, nssv1760751, nssv1760758
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesBMP8B, OXCT2
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv945895
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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