A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2471



Internal ID15200348
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:35346502..35412213hg38UCSC Ensembl
Outerchr19:35837405..35903115hg19UCSC Ensembl
Outerchr19:40529245..40594955hg18UCSC Ensembl
Outerchr19:40529245..40594955hg17UCSC Ensembl
Cytoband19q13.12
Allele length
AssemblyAllele length
hg3865712
hg1965711
hg1865711
hg1765711
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2219, nssv1449, nssv10993
SamplesNA15510, NA19240, NA18555
Known GenesCD22, FFAR1, FFAR3, LOC100128682
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)nsv2471
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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