A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3643



Internal ID15201587
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:42134472..42197574hg38UCSC Ensembl
Outerchr22:42530478..42593580hg19UCSC Ensembl
Outerchr22:40860422..40923524hg18UCSC Ensembl
Outerchr22:40854976..40918078hg17UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg3813672
hg1913672
hg1813672
hg1713672
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4590, nssv10328, nssv2380, nssv10327, nssv10326, nssv2378
SamplesNA12878, NA18956, NA18555
Known GenesCYP2D7P, TCF20
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)nsv3643
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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