A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3958005



Internal ID19205369
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:94689264..94689321hg38UCSC Ensembl
Outerchr8:95701492..95701549hg19UCSC Ensembl
Cytoband8q22.1
Allele length
AssemblyAllele length
hg3858
hg1958
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1117840
Supporting Variants
SamplesKWS1
Known GenesESRP1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3958005
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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