A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2441



Internal ID15194004
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:192180843..192272191hg38UCSC Ensembl
Outerchr3:191898632..191989980hg19UCSC Ensembl
Outerchr3:193381326..193472674hg18UCSC Ensembl
Outerchr3:193381334..193472682hg17UCSC Ensembl
Cytoband3q28
Allele length
AssemblyAllele length
hg3891349
hg1991349
hg1891349
hg1791349
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4170
Supporting Variants
SamplesNA18555
Known GenesFGF12
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)nssv2441
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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