A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3990815



Internal ID19240904
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:110474681..110474769hg38UCSC Ensembl
Outerchr13:111127028..111127116hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg3889
hg1989
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1113606
Supporting Variants
SamplesKWS2
Known GenesCOL4A2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3990815
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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