A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1134549



Internal ID18931372
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:138271602..138272037hg38UCSC Ensembl
Outerchr5:137607291..137607726hg19UCSC Ensembl
Cytoband5q31.2
Allele length
AssemblyAllele length
hg38436
hg19436
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3179n106
Supporting Variantsnssv3972432
SamplesKWS1
Known GenesGFRA3
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1134549
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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