A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4587



Internal ID15549311
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:217994640..218042199hg38UCSC Ensembl
Outerchr1:218167982..218215541hg19UCSC Ensembl
Outerchr1:216234605..216282164hg18UCSC Ensembl
Outerchr1:214556377..214603936hg17UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg3847560
hg1947560
hg1847560
hg1747560
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3771, nssv9907, nssv1705, nssv6154, nssv11183
SamplesNA18507, NA12156, NA12878, NA15510, NA18555
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)nsv4587
Frequency
Sample Size9
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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