A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3985462



Internal ID18862120
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:134955103..134955714hg38UCSC Ensembl
Outerchr3:134673945..134674556hg19UCSC Ensembl
Cytoband3q22.2
Allele length
AssemblyAllele length
hg38612
hg19612
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1127112
Supporting Variants
SamplesKWS1
Known GenesEPHB1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3985462
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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