A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4777



Internal ID15549520
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:227387639..227420418hg38UCSC Ensembl
Outerchr1:227575340..227608119hg19UCSC Ensembl
Outerchr1:225641963..225674742hg18UCSC Ensembl
Outerchr1:223882075..223914854hg17UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg386478
hg196478
hg186478
hg176478
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4998
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)nsv4777
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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