A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2998270



Internal ID17291222
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:113392386..113435785hg38UCSC Ensembl
Outerchr13:114046701..114090100hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg3843400
hg1943400
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv951928
Supporting Variants
SamplesBILGI_BIOE
Known GenesADPRHL1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv2998270
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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