A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4576



Internal ID15549299
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:217162216..217193359hg38UCSC Ensembl
Outerchr1:217335558..217366701hg19UCSC Ensembl
Outerchr1:215402181..215433324hg18UCSC Ensembl
Outerchr1:213723953..213755096hg17UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg388362
hg198362
hg188362
hg178362
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv10481
SamplesNA18956
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)nsv4576
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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