A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv958632



Internal ID16960819
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:243619487..243620553hg38UCSC Ensembl
Outerchr1:243782789..243783855hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg381067
hg191067
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv17n73
Supporting Variantsnssv3005117
SamplesBILGI_BIOE
Known GenesAKT3
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv958632
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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