A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3982264



Internal ID19224388
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:7557378..7558678hg38UCSC Ensembl
Outerchr8:7414900..7416200hg19UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg381301
hg191301
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1145180
Supporting Variants
SamplesKWS1
Known GenesFAM90A7P
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3982264
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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