A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1119181



Internal ID18916423
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:57994041..57994641hg38UCSC Ensembl
Outerchr8:58906600..58907200hg19UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg38601
hg19601
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3981987
SamplesKWS1
Known GenesFAM110B
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1119181
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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