A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1119530



Internal ID18933167
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:96896839..96896891hg38UCSC Ensembl
Outerchr5:96232543..96232595hg19UCSC Ensembl
Cytoband5q15
Allele length
AssemblyAllele length
hg3853
hg1953
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3960729
SamplesKWS1
Known GenesERAP2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1119530
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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