A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2998695



Internal ID17291647
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:11692292..11711791hg38UCSC Ensembl
Outerchr8:11549801..11569300hg19UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3819500
hg1919500
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv951101
Supporting Variants
SamplesBILGI_BIOE
Known GenesGATA4
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv2998695
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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