A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1233



Internal ID15199110
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:31023799..31035069hg38UCSC Ensembl
Outerchr14:31493005..31504275hg19UCSC Ensembl
Outerchr14:30562756..30574026hg18UCSC Ensembl
Outerchr14:30562756..30574026hg17UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg386206
hg196206
hg186206
hg176206
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2915
SamplesNA18555
Known GenesAP4S1, STRN3
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)nsv1233
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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