A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv966786



Internal ID18602016
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:42113242..42115613hg38UCSC Ensembl
Innerchr7:42152841..42155212hg19UCSC Ensembl
Innerchr7:42119366..42121737hg18UCSC Ensembl
Cytoband7p14.1
Allele length
AssemblyAllele length
hg382372
hg192372
hg182372
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2445976, nssv2445978, nssv2445974, nssv2445983, nssv2445982, nssv2445977, nssv2445980, nssv2445979, nssv2445975, nssv2445981
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesGLI3
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv966786
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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