A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3987424



Internal ID19209756
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:45804601..45811701hg38UCSC Ensembl
Outerchr7:45844200..45851300hg19UCSC Ensembl
Cytoband7p12.3
Allele length
AssemblyAllele length
hg387101
hg197101
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1132637
Supporting Variants
SamplesKWS1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3987424
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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