A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3996104



Internal ID19191050
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:174234861..174236562hg38UCSC Ensembl
Outerchr1:174203999..174205700hg19UCSC Ensembl
Cytoband1q25.1
Allele length
AssemblyAllele length
hg381702
hg191702
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1150629
Supporting Variants
SamplesKWB1
Known GenesRABGAP1L
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv3996104
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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