A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1122



Internal ID15197936
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:120244045..120261675hg38UCSC Ensembl
Outerchr12:120681848..120699478hg19UCSC Ensembl
Outerchr12:119166231..119183861hg18UCSC Ensembl
Outerchr12:119144568..119162198hg17UCSC Ensembl
Cytoband12q24.23
Allele length
AssemblyAllele length
hg3821598
hg1921598
hg1821598
hg1721598
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv905
Supporting Variants
SamplesNA19240
Known GenesPXN
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)nssv1122
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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