A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2997248



Internal ID16943514
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:2153662..2229961hg38UCSC Ensembl
Outerchr1:2085101..2161400hg19UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg3876300
hg1976300
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv951530
Supporting Variants
SamplesBILGI_BIOE
Known GenesC1orf86, PRKCZ, SKI
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv2997248
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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