A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3221



Internal ID15537949
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:193117790..193153186hg38UCSC Ensembl
Outerchr3:192835579..192870975hg19UCSC Ensembl
Outerchr3:194318273..194353669hg18UCSC Ensembl
Outerchr3:194318281..194353677hg17UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg384341
hg194341
hg184341
hg174341
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4173
Supporting Variants
SamplesNA12878
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)nssv3221
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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