A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946739



Internal ID18593589
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:149120913..149128911hg38UCSC Ensembl
Innerchr1:144568375..144576393hg19UCSC Ensembl
Innerchr1:143279732..143287750hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg387999
hg198019
hg188019
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8n82
Supporting Variantsnssv2581248, nssv2581253, nssv2581247, nssv2581245, nssv2581252, nssv2581250, nssv2581251, nssv2581246, nssv2581254, nssv2581249
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesLOC100288142
MethodSequencing
Analysislineage specific fixed expansions
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv946739
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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