A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1463n106



Internal ID20160820
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:37973344..38250190hg38UCSC Ensembl
chr17:36332900..36406200hg19UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg38276847
hg1973301
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1139675, nsv1128763
SamplesKWS1, KWS2
Known GenesLOC440434, TBC1D3, TBC1D3C, TBC1D3F, TBC1D3H
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)dgv1463n106
Frequency
Sample Size2
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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