A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3985683



Internal ID19208514
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:58562935..58569366hg38UCSC Ensembl
Outerchr4:59429100..59435531hg19UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg386432
hg196432
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1127281
Supporting Variants
SamplesKWS1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3985683
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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