A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1138258



Internal ID19267717
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:99026010..99026097hg38UCSC Ensembl
Outerchr13:99678264..99678351hg19UCSC Ensembl
Cytoband13q32.3
Allele length
AssemblyAllele length
hg3888
hg1988
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1022n106
Supporting Variantsnssv3968915, nssv3964592
SamplesKWS2, KWS1
Known GenesDOCK9
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1138258
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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