A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1141591



Internal ID19283086
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:85642871..85663971hg38UCSC Ensembl
Outerchr8:86555100..86576200hg19UCSC Ensembl
Cytoband8q21.2
Allele length
AssemblyAllele length
hg3821101
hg1921101
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3987460, nssv3977820
SamplesKWS2, KWS1
Known GenesREXO1L1, REXO1L2P
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1141591
Frequency
Sample Size2
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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