A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3960804



Internal ID18878355
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:177948056..179520015hg38UCSC Ensembl
Outerchr5:177375057..178947016hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg381571960
hg191571960
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1120062
Supporting Variants
SamplesKWS1
Known GenesAACSP1, ADAMTS2, CLK4, COL23A1, FAM153C, GMCL1P1, GRM6, HNRNPAB, N4BP3, NHP2, PHYKPL, PROP1, RMND5B, ZFP2, ZNF354A, ZNF354B, ZNF354C, ZNF454, ZNF879
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3960804
Frequency
Sample Size2
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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