A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3612



Internal ID15201553
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:35713114..35761709hg38UCSC Ensembl
Outerchr22:36109161..36157756hg19UCSC Ensembl
Outerchr22:34439107..34487702hg18UCSC Ensembl
Outerchr22:34433661..34482256hg17UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg387394
hg197394
hg187394
hg177394
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv5931, nssv9870, nssv4584, nssv6982, nssv2371, nssv1642
SamplesNA18507, NA19129, NA12156, NA12878, NA19240, NA18555
Known GenesAPOL5, RBFOX2
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)nsv3612
Frequency
Sample Size9
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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