A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1114599



Internal ID18910106
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:168506381..168506443hg38UCSC Ensembl
Outerchr4:169427532..169427594hg19UCSC Ensembl
Cytoband4q32.3
Allele length
AssemblyAllele length
hg3863
hg1963
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3974031, nssv3957192
SamplesKWS2, KWS1
Known GenesPALLD
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1114599
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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