A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3997807



Internal ID19190793
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:130299..144500hg38UCSC Ensembl
Outerchr1:130299..144500hg19UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg3814202
hg1914202
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1149021
Supporting Variants
SamplesKWB1
Known GenesLOC729737
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv3997807
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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