A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2414



Internal ID15540719
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:130022760..130092558hg38UCSC Ensembl
Outerchr3:129741603..129811401hg19UCSC Ensembl
Outerchr3:131224293..131294091hg18UCSC Ensembl
Outerchr3:131224301..131294099hg17UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg3869799
hg1969799
hg1869799
hg1769799
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv4001
Supporting Variants
SamplesNA18555
Known GenesALG1L2
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)nssv2414
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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