A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3124



Internal ID15194165
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:8617856..8621172hg38UCSC Ensembl
Outerchr4:8619583..8622898hg19UCSC Ensembl
Outerchr4:8670483..8673798hg18UCSC Ensembl
Outerchr4:8737654..8740969hg17UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg388577
hg198577
hg188577
hg178577
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv4225
Supporting Variants
SamplesNA18555
Known GenesCPZ
MethodSequencing
AnalysisEnd-sequence pairs were mapped to the human genome assembly (hg17) using a previously described algorithm (Tuzun et al 2005)
PlatformCapillary
Comments
ReferenceKidd_et_al_2008
Pubmed ID18451855
Accession Number(s)nssv3124
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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