A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3962592



Internal ID19224541
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:121361245..121368945hg38UCSC Ensembl
Outerchr4:122282400..122290100hg19UCSC Ensembl
Cytoband4q27
Allele length
AssemblyAllele length
hg387701
hg197701
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1129162
Supporting Variants
SamplesKWS1
Known GenesQRFPR
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3962592
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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