A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4062



Internal ID15538789
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:25803189..25824222hg38UCSC Ensembl
Outerchr13:26377327..26398360hg19UCSC Ensembl
Outerchr13:25275327..25296360hg18UCSC Ensembl
Outerchr13:25275327..25296360hg17UCSC Ensembl
Cytoband13q12.13
Allele length
AssemblyAllele length
hg384609
hg194609
hg184609
hg174609
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv967
Supporting Variants
SamplesNA12878
Known GenesATP8A2
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)nssv4062
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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