A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2503



Internal ID15200380
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:43690920..43723211hg38UCSC Ensembl
Outerchr19:44195072..44227363hg19UCSC Ensembl
Outerchr19:48886912..48919203hg18UCSC Ensembl
Outerchr19:48886912..48919203hg17UCSC Ensembl
Cytoband19q13.31
Allele length
AssemblyAllele length
hg387454
hg197454
hg187454
hg177454
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4363
SamplesNA12878
Known GenesIRGC
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)nsv2503
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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