A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3001381



Internal ID16947647
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:48619168..48663967hg38UCSC Ensembl
Outerchr3:48656601..48701400hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg3844800
hg1944800
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv954485
Supporting Variants
SamplesBILGI_BIOE
Known GenesCELSR3, MIR4793, MIR6824, SLC26A6, TMEM89
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv3001381
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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