A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4003241



Internal ID19189599
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:74289524..74289596hg38UCSC Ensembl
Outerchr1:74755208..74755280hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg3873
hg1973
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1153966
Supporting Variants
SamplesKWB1
Known GenesFPGT-TNNI3K, TNNI3K
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv4003241
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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