A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1114355



Internal ID18913951
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:14402775..14402820hg38UCSC Ensembl
Outerchr3:14444277..14444330hg19UCSC Ensembl
Cytoband3p25.1
Allele length
AssemblyAllele length
hg3846
hg1954
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3973396, nssv3956567
SamplesKWS2, KWS1
Known GenesSLC6A6
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1114355
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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