A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv972006



Internal ID18260536
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:46428430..46429565hg38UCSC Ensembl
Innerchr11:46449980..46451115hg19UCSC Ensembl
Innerchr11:46406556..46407691hg18UCSC Ensembl
Cytoband11p11.2
Allele length
AssemblyAllele length
hg381136
hg191136
hg181136
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1883996, nssv1883997, nssv1883993, nssv1883990, nssv1883995, nssv1883989, nssv1883994, nssv1883991, nssv1883992, nssv1883988
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesAMBRA1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv972006
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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