A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4427



Internal ID15549135
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:91254583..91287084hg38UCSC Ensembl
Outerchr4:92175734..92208235hg19UCSC Ensembl
Outerchr4:92394757..92427258hg18UCSC Ensembl
Outerchr4:92532912..92565413hg17UCSC Ensembl
Cytoband4q22.1
Allele length
AssemblyAllele length
hg386996
hg196996
hg186996
hg176996
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv10416
SamplesNA18956
Known GenesCCSER1
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)nsv4427
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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