A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3997



Internal ID15548662
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:129320541..129368263hg38UCSC Ensembl
Outerchr3:129039384..129087106hg19UCSC Ensembl
Outerchr3:130522074..130569796hg18UCSC Ensembl
Outerchr3:130522082..130569804hg17UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg3847723
hg1947723
hg1847723
hg1747723
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4680, nssv10360, nssv326
SamplesNA18956, NA19240, NA19129
Known GenesH1FX-AS1
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)nsv3997
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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