A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv912



Internal ID15206247
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:121841785..121873999hg38UCSC Ensembl
Outerchr12:122279691..122311905hg19UCSC Ensembl
Outerchr12:120764074..120796288hg18UCSC Ensembl
Outerchr12:120742411..120774625hg17UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg387291
hg197291
hg187291
hg177291
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv9977
SamplesNA18956
Known GenesHPD
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)nsv912
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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