A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3990044



Internal ID19234190
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:180208800..180209300hg38UCSC Ensembl
Outerchr5:179635800..179636300hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg38501
hg19501
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1122122
Supporting Variants
SamplesKWS2
Known GenesRASGEF1C
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3990044
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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