A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1145004



Internal ID18902847
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:141486758..141487758hg38UCSC Ensembl
Outerchr3:141205600..141206600hg19UCSC Ensembl
Cytoband3q23
Allele length
AssemblyAllele length
hg381001
hg191001
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3981618
SamplesKWS1
Known GenesRASA2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1145004
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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