A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2494



Internal ID15540631
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:181240642..181244671hg38UCSC Ensembl
Outerchr4:182161795..182165824hg19UCSC Ensembl
Outerchr4:182398789..182402818hg18UCSC Ensembl
Outerchr4:182536944..182540973hg17UCSC Ensembl
Cytoband4q34.3
Allele length
AssemblyAllele length
hg3810557
hg1910557
hg1810557
hg1710557
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv4621
Supporting Variants
SamplesNA18555
Known Genes
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)nssv2494
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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