A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3965153



Internal ID19225358
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:36232633..36232724hg38UCSC Ensembl
Outerchr13:36806770..36806861hg19UCSC Ensembl
Cytoband13q13.3
Allele length
AssemblyAllele length
hg3892
hg1992
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1130010
Supporting Variants
SamplesKWS1
Known GenesCCDC169, CCDC169-SOHLH2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3965153
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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