A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3990814



Internal ID19226342
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:110255852..110255928hg38UCSC Ensembl
Outerchr13:110908199..110908275hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg3877
hg1977
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1138269
Supporting Variants
SamplesKWS2
Known GenesCOL4A1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3990814
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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