A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1644



Internal ID15198737
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:41770898..41806204hg38UCSC Ensembl
Outerchr22:42166902..42202208hg19UCSC Ensembl
Outerchr22:40496848..40532154hg18UCSC Ensembl
Outerchr22:40491402..40526708hg17UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg385688
hg195688
hg185688
hg175688
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3640
Supporting Variants
SamplesNA19240
Known GenesCCDC134, MEI1
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)nssv1644
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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