A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4598



Internal ID15202637
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:218307807..218343089hg38UCSC Ensembl
Outerchr1:218481149..218516431hg19UCSC Ensembl
Outerchr1:216547772..216583054hg18UCSC Ensembl
Outerchr1:214869544..214904826hg17UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg3835283
hg1935283
hg1835283
hg1735283
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv8107
SamplesNA12156
Known GenesRRP15
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)nsv4598
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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