A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv777



Internal ID15552798
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:48635803..48669462hg38UCSC Ensembl
Outerchr1:49101475..49135134hg19UCSC Ensembl
Outerchr1:48874062..48907721hg18UCSC Ensembl
Outerchr1:48813495..48847154hg17UCSC Ensembl
Cytoband1p33
Allele length
AssemblyAllele length
hg387324
hg197324
hg187324
hg177324
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1118
SamplesNA19240
Known GenesAGBL4
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)nsv777
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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