A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv10122



Internal ID15542675
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:43344710..43371793hg38UCSC Ensembl
Outerchr17:41422078..41449161hg19UCSC Ensembl
Outerchr17:38777604..38804687hg18UCSC Ensembl
Outerchr17:38777604..38804687hg17UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg387290
hg197290
hg187290
hg177290
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv2058
Supporting Variants
SamplesNA18956
Known GenesLINC00910
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)nssv10122
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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