A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2709



Internal ID15195181
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:171871676..171905289hg38UCSC Ensembl
Outerchr1:171840816..171874429hg19UCSC Ensembl
Outerchr1:170107439..170141052hg18UCSC Ensembl
Outerchr1:168572473..168606086hg17UCSC Ensembl
Cytoband1q24.3
Allele length
AssemblyAllele length
hg386412
hg196412
hg186412
hg176412
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3521
Supporting Variants
SamplesNA18555
Known GenesDNM3
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)nssv2709
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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