A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1142413



Internal ID19277599
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:241668955..241669084hg38UCSC Ensembl
Outerchr2:242608370..242608499hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38130
hg19130
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3993918
SamplesKWS1
Known GenesATG4B
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1142413
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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