A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2997163



Internal ID16943429
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:77912316..77914715hg38UCSC Ensembl
Outerchr1:78378001..78380400hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg382400
hg192400
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv950196
Supporting Variants
SamplesBILGI_BIOE
Known GenesNEXN
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv2997163
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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