A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2216



Internal ID15546779
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:14776360..14841990hg38UCSC Ensembl
Outerchr18:14776359..14841989hg19UCSC Ensembl
Outerchr18:14766359..14831989hg18UCSC Ensembl
Outerchr18:14766359..14831989hg17UCSC Ensembl
Cytoband18p11.21
Allele length
AssemblyAllele length
hg3865631
hg1965631
hg1865631
hg1765631
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv10149, nssv9972, nssv5691, nssv1396
SamplesNA18507, NA18956, NA19240, NA19129
Known GenesANKRD30B, MIR3156-2
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)nsv2216
Frequency
Sample Size9
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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