A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3572



Internal ID15191614
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:184836617..184852519hg38UCSC Ensembl
Outerchr1:184805751..184821653hg19UCSC Ensembl
Outerchr1:183072374..183088276hg18UCSC Ensembl
Outerchr1:181537408..181553310hg17UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg3815903
hg1915903
hg1815903
hg1715903
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3843
Supporting Variants
SamplesNA12878
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)nssv3572
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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