A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1126656



Internal ID18938727
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:134574758..134575758hg38UCSC Ensembl
Outerchr3:134293600..134294600hg19UCSC Ensembl
Cytoband3q22.2
Allele length
AssemblyAllele length
hg381001
hg191001
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2605n106
Supporting Variantsnssv3984922
SamplesKWS1
Known GenesCEP63
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1126656
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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