A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv324



Internal ID15545057
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:127081179..127116271hg38UCSC Ensembl
Outerchr3:126800022..126835114hg19UCSC Ensembl
Outerchr3:128282712..128317804hg18UCSC Ensembl
Outerchr3:128282720..128317812hg17UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg385908
hg195908
hg185908
hg175908
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3989
Supporting Variants
SamplesNA19240
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)nssv324
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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