A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv9581



Internal ID15193047
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:161969545..161992101hg38UCSC Ensembl
Outerchr2:162826055..162848611hg19UCSC Ensembl
Outerchr2:162534301..162556857hg18UCSC Ensembl
Outerchr2:162651562..162674118hg17UCSC Ensembl
Cytoband2q24.2
Allele length
AssemblyAllele length
hg3814125
hg1914125
hg1814125
hg1714125
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3008
Supporting Variants
SamplesNA18507
Known GenesSLC4A10
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)nssv9581
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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