A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv7712



Internal ID15206063
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:31414561..31442851hg38UCSC Ensembl
Outerchr1:31887408..31915698hg19UCSC Ensembl
Outerchr1:31659995..31688285hg18UCSC Ensembl
Outerchr1:31556501..31584791hg17UCSC Ensembl
Cytoband1p35.2
Allele length
AssemblyAllele length
hg388121
hg198121
hg188121
hg178121
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv5468, nssv1039, nssv6532, nssv4085
SamplesNA19129, NA12156, NA12878, NA19240
Known GenesSERINC2
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)nsv7712
Frequency
Sample Size9
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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