A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1141748



Internal ID18931050
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 StatusM
Merged Variants
Supporting Variantsnssv3993254
SamplesKWS2
Known GenesSMYD2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1141748
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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