A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4309



Internal ID15539036
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:24193992..24213146hg38UCSC Ensembl
Outerchr18:21773956..21793110hg19UCSC Ensembl
Outerchr18:20027954..20047108hg18UCSC Ensembl
Outerchr18:20027954..20047108hg17UCSC Ensembl
Cytoband18q11.2
Allele length
AssemblyAllele length
hg385506
hg195506
hg185506
hg175506
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2229
Supporting Variants
SamplesNA12878
Known GenesOSBPL1A
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)nssv4309
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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