A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3978238



Internal ID19246580
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:83025284..83027784hg38UCSC Ensembl
Outerchr7:82654600..82657100hg19UCSC Ensembl
Cytoband7q21.11
Allele length
AssemblyAllele length
hg382501
hg192501
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1139902
Supporting Variants
SamplesKWS2
Known GenesPCLO
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3978238
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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