A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3993570



Internal ID18889696
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:69916088..69916203hg38UCSC Ensembl
Outerchr1:70381771..70381886hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg38116
hg19116
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1142060
Supporting Variants
SamplesKWS2
Known GenesLRRC7
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3993570
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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