A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv951438



Internal ID17300312
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:60678542..60680541hg38UCSC Ensembl
Outerchr8:61591101..61593100hg19UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg382000
hg192000
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2999291
SamplesBILGI_BIOE
Known GenesCHD7
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv951438
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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