A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1119057



Internal ID19252273
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:178994299..178994999hg38UCSC Ensembl
Outerchr5:178421300..178422000hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg38701
hg19701
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3981855
SamplesKWS1
Known GenesGRM6
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1119057
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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