A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1135555



Internal ID18917089
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:171808202..171808320hg38UCSC Ensembl
Outerchr2:172664712..172664830hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg38119
hg19119
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2093n106
Supporting Variantsnssv3989123
SamplesKWS2
Known GenesSLC25A12
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1135555
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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