A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1142794



Internal ID18929156
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:245975098..245976998hg38UCSC Ensembl
Outerchr1:246138400..246140300hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg381901
hg191901
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3994298
SamplesKWS1
Known GenesSMYD3
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1142794
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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