A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3977546



Internal ID19231194
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:43981601..43985401hg38UCSC Ensembl
Outerchr7:44021200..44025000hg19UCSC Ensembl
Cytoband7p13
Allele length
AssemblyAllele length
hg383801
hg193801
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1115739
Supporting Variants
SamplesKWS2
Known GenesPOLR2J4
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3977546
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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