A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3004343



Internal ID17297295
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:110253327..110253438hg38UCSC Ensembl
Outerchr13:110905674..110905785hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg38112
hg19112
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv957463
Supporting Variants
SamplesBILGI_BIOE
Known GenesCOL4A1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv3004343
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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