A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1088



Internal ID15545651
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:61587894..61620756hg38UCSC Ensembl
Outerchr1:62053566..62086428hg19UCSC Ensembl
Outerchr1:61826154..61859016hg18UCSC Ensembl
Outerchr1:61765587..61798449hg17UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg386418
hg196418
hg186418
hg176418
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv5608
SamplesNA19129
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)nsv1088
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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