A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3617



Internal ID15201558
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:36727685..36821818hg38UCSC Ensembl
Outerchr22:37123730..37217862hg19UCSC Ensembl
Outerchr22:35453676..35547808hg18UCSC Ensembl
Outerchr22:35448230..35542362hg17UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg3894134
hg1994133
hg1894133
hg1794133
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv10323, nssv6983, nssv7744, nssv2372, nssv4586, nssv11054, nssv9871
SamplesNA18507, NA12156, NA12878, NA18956, NA15510, NA18555
Known GenesIFT27, PVALB
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)nsv3617
Frequency
Sample Size9
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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