A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv945771



Internal ID18245936
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:11992467..11994195hg38UCSC Ensembl
Innerchr1:12052524..12054252hg19UCSC Ensembl
Innerchr1:11975111..11976839hg18UCSC Ensembl
Cytoband1p36.22
Allele length
AssemblyAllele length
hg381729
hg191729
hg181729
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1752988, nssv1752982, nssv1752983, nssv1752979, nssv1752981, nssv1752986, nssv1752984, nssv1752987, nssv1752985, nssv1752980
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesMFN2
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv945771
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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