A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2432



Internal ID15200309
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:111789120..111814095hg38UCSC Ensembl
Outerchr1:112331742..112356717hg19UCSC Ensembl
Outerchr1:112133265..112158240hg18UCSC Ensembl
Outerchr1:112043784..112068759hg17UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg386913
hg196913
hg186913
hg176913
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1338
SamplesNA19240
Known GenesKCND3
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)nsv2432
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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