A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3992832



Internal ID18893819
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:7037189..7060389hg38UCSC Ensembl
Outerchr19:7037200..7060400hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg3823201
hg1923201
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1141328
Supporting Variants
SamplesKWS2
Known GenesMBD3L2, MBD3L3, MBD3L4
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3992832
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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