A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1135393



Internal ID18933484
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:184845594..184851650hg38UCSC Ensembl
Outerchr1:184814728..184820784hg19UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg386057
hg196057
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv232n106
Supporting Variantsnssv3995204, nssv3988954
SamplesKWS2, KWS1
Known GenesFAM129A
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1135393
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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