A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv955060



Internal ID16957247
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:199447735..199447952hg38UCSC Ensembl
Outerchr2:200312458..200312675hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg38218
hg19218
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3003825
SamplesBILGI_BIOE
Known GenesSATB2
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv955060
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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