A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1112975



Internal ID18904923
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:144465517..144466117hg38UCSC Ensembl
Outerchr8:145690900..145691500hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg38601
hg19601
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3934n106
Supporting Variantsnssv3967481
SamplesKWS2
Known GenesCYHR1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1112975
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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