A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv952671



Internal ID16954858
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:49274090..49284789hg38UCSC Ensembl
Outerchr16:49308001..49318700hg19UCSC Ensembl
Cytoband16q12.1
Allele length
AssemblyAllele length
hg3810700
hg1910700
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3000138
SamplesBILGI_BIOE
Known GenesCBLN1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv952671
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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