A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv7099



Internal ID15205388
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:71548858..71583002hg38UCSC Ensembl
Outerchr10:73308615..73342759hg19UCSC Ensembl
Outerchr10:72978621..73012765hg18UCSC Ensembl
Outerchr10:72978621..73012765hg17UCSC Ensembl
Cytoband10q22.1
Allele length
AssemblyAllele length
hg385290
hg195290
hg185290
hg175290
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv8811, nssv947
SamplesNA12156, NA19240
Known GenesCDH23
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)nsv7099
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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