A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv8070



Internal ID15189108
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:212029819..212063004hg38UCSC Ensembl
Outerchr1:212203161..212236346hg19UCSC Ensembl
Outerchr1:210269784..210302969hg18UCSC Ensembl
Outerchr1:208591556..208624741hg17UCSC Ensembl
Cytoband1q32.3
Allele length
AssemblyAllele length
hg386253
hg196253
hg186253
hg176253
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4432
Supporting Variants
SamplesNA12156
Known GenesDTL, INTS7
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)nssv8070
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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