A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2998984



Internal ID16945250
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:180395666..180403565hg38UCSC Ensembl
Outerchr1:180364801..180372700hg19UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg387900
hg197900
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv952296
Supporting Variants
SamplesBILGI_BIOE
Known GenesACBD6
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv2998984
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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