A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1118297



Internal ID19248848
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:103056363..103057763hg38UCSC Ensembl
Outerchr14:103522700..103524100hg19UCSC Ensembl
Cytoband14q32.32
Allele length
AssemblyAllele length
hg381401
hg191401
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3980974
SamplesKWS1
Known GenesCDC42BPB
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1118297
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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