A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3975408



Internal ID19230835
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:77234827..77234878hg38UCSC Ensembl
Outerchr8:78147063..78147114hg19UCSC Ensembl
Cytoband8q21.11
Allele length
AssemblyAllele length
hg3852
hg1952
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1140912
Supporting Variants
SamplesKWS2
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3975408
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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