A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv943



Internal ID15198400
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:62184801..62217947hg38UCSC Ensembl
Outerchr10:63944560..63977706hg19UCSC Ensembl
Outerchr10:63614566..63647712hg18UCSC Ensembl
Outerchr10:63614566..63647712hg17UCSC Ensembl
Cytoband10q21.2
Allele length
AssemblyAllele length
hg387846
hg197846
hg187846
hg177846
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6831
Supporting Variants
SamplesNA19240
Known GenesRTKN2
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)nssv943
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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