A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1121732



Internal ID18907101
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:168775065..168777474hg38UCSC Ensembl
Outerchr5:168202070..168204479hg19UCSC Ensembl
Cytoband5q34
Allele length
AssemblyAllele length
hg382410
hg192410
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3980609, nssv3967627
SamplesKWS1, KWS2
Known GenesSLIT3
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1121732
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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