A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3990765



Internal ID19239722
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:36244777..36244838hg38UCSC Ensembl
Outerchr13:36818914..36818975hg19UCSC Ensembl
Cytoband13q13.3
Allele length
AssemblyAllele length
hg3862
hg1962
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1138215
Supporting Variants
SamplesKWS2
Known GenesCCDC169, CCDC169-SOHLH2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3990765
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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