A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv952677



Internal ID16954864
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:53624189..53626488hg38UCSC Ensembl
Outerchr16:53658101..53660400hg19UCSC Ensembl
Cytoband16q12.2
Allele length
AssemblyAllele length
hg382300
hg192300
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3000145
SamplesBILGI_BIOE
Known GenesRPGRIP1L
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv952677
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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