A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4876



Internal ID15196315
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:184840640..184861822hg38UCSC Ensembl
Outerchr1:184809774..184830956hg19UCSC Ensembl
Outerchr1:183076397..183097579hg18UCSC Ensembl
Outerchr1:181541431..181562613hg17UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg3821183
hg1921183
hg1821183
hg1721183
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3843
Supporting Variants
SamplesNA19129
Known GenesFAM129A
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)nssv4876
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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