A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv790



Internal ID15552811
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:81733318..81753031hg38UCSC Ensembl
Outerchr12:82127097..82146810hg19UCSC Ensembl
Outerchr12:80651228..80670941hg18UCSC Ensembl
Outerchr12:80629565..80649278hg17UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg3819714
hg1919714
hg1819714
hg1719714
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2002
SamplesNA18555
Known GenesPPFIA2
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)nsv790
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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