A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3987723



Internal ID18857120
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:8294479..8294529hg38UCSC Ensembl
Outerchr4:8296206..8296256hg19UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg3851
hg1951
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1132929
Supporting Variants
SamplesKWS1
Known GenesHTRA3
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3987723
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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