A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3193n106



Internal ID20162550
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:150205236..150205320hg38UCSC Ensembl
chr5:149584799..149584883hg19UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg3885
hg1985
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1109736, nsv1123994
SamplesKWS2, KWS1
Known GenesSLC6A7
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)dgv3193n106
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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