A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3993254



Internal ID18893963
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:214286367..214286441hg38UCSC Ensembl
Outerchr1:214459710..214459784hg19UCSC Ensembl
Cytoband1q32.3
Allele length
AssemblyAllele length
hg3875
hg1975
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1141748
Supporting Variants
SamplesKWS2
Known GenesSMYD2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3993254
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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