A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3977260



Internal ID18881539
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:37973344..38250190hg38UCSC Ensembl
Outerchr17:36332900..36406200hg19UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg38276847
hg1973301
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1139675
Supporting Variants
SamplesKWS2
Known GenesLOC440434, TBC1D3, TBC1D3C, TBC1D3F, TBC1D3H
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3977260
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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