A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1145079



Internal ID18931624
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:177472999..177474099hg38UCSC Ensembl
Outerchr5:176900000..176901100hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg381101
hg191101
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3231n106
Supporting Variantsnssv3981699
SamplesKWS1
Known GenesDBN1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1145079
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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