A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv7351



Internal ID15189827
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:80304314..80349520hg38UCSC Ensembl
Outerchr17:78278114..78323320hg19UCSC Ensembl
Outerchr17:75892709..75937915hg18UCSC Ensembl
Outerchr17:75892709..75937915hg17UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg3845207
hg1945207
hg1845207
hg1745207
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2158
Supporting Variants
SamplesNA12156
Known GenesRNF213
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)nssv7351
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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