A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5750



Internal ID15550591
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:54110568..54135755hg38UCSC Ensembl
Outerchr7:54178261..54203448hg19UCSC Ensembl
Outerchr7:54145755..54170942hg18UCSC Ensembl
Outerchr7:53952470..53977657hg17UCSC Ensembl
Cytoband7p11.2
Allele length
AssemblyAllele length
hg3825188
hg1925188
hg1825188
hg1725188
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv8376
SamplesNA12156
Known Genes
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)nsv5750
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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