A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4002564



Internal ID19188458
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:104421899..104421958hg38UCSC Ensembl
Outerchr2:105038357..105038416hg19UCSC Ensembl
Cytoband2q12.1
Allele length
AssemblyAllele length
hg3860
hg1960
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1149054
Supporting Variants
SamplesKWB1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv4002564
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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