A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2998268



Internal ID16944534
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:159171311..159173910hg38UCSC Ensembl
Outerchr1:159141101..159143700hg19UCSC Ensembl
Cytoband1q23.2
Allele length
AssemblyAllele length
hg382600
hg192600
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv952221
Supporting Variants
SamplesBILGI_BIOE
Known GenesCADM3
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv2998268
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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