A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3997584



Internal ID19187112
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:77199664..77204865hg38UCSC Ensembl
Outerchr13:77773799..77779000hg19UCSC Ensembl
Cytoband13q22.3
Allele length
AssemblyAllele length
hg385202
hg195202
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1148797
Supporting Variants
SamplesKWB1
Known GenesMYCBP2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv3997584
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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