A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3974168



Internal ID18881327
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:141480504..141482779hg38UCSC Ensembl
Outerchr5:140860071..140862346hg19UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg382276
hg192276
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1123990
Supporting Variants
SamplesKWS2
Known GenesPCDHGA1, PCDHGA10, PCDHGA11, PCDHGA12, PCDHGA2, PCDHGA3, PCDHGA4, PCDHGA5, PCDHGA6, PCDHGA7, PCDHGA8, PCDHGA9, PCDHGB1, PCDHGB2, PCDHGB3, PCDHGB4, PCDHGB5, PCDHGB6, PCDHGB7, PCDHGC3
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3974168
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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