A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1122119



Internal ID18938475
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:177473199..177473999hg38UCSC Ensembl
Outerchr5:176900200..176901000hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg38801
hg19801
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3231n106
Supporting Variantsnssv3969561
SamplesKWS2
Known GenesDBN1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1122119
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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