A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4188



Internal ID15202186
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:205625451..205659271hg38UCSC Ensembl
Outerchr1:205594579..205628399hg19UCSC Ensembl
Outerchr1:203861202..203895022hg18UCSC Ensembl
Outerchr1:202326236..202360056hg17UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg387172
hg197172
hg187172
hg177172
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv444
SamplesNA19240
Known GenesELK4, SLC45A3
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)nsv4188
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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