A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv680



Internal ID15551745
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:39399082..39432814hg38UCSC Ensembl
Outerchr12:39792884..39826616hg19UCSC Ensembl
Outerchr12:38079151..38112883hg18UCSC Ensembl
Outerchr12:38079151..38112883hg17UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg387261
hg197261
hg187261
hg177261
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1077
SamplesNA19240
Known GenesKIF21A
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)nsv680
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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