A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2715



Internal ID15195174
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:179600765..179614466hg38UCSC Ensembl
Outerchr1:179569900..179583601hg19UCSC Ensembl
Outerchr1:177836523..177850224hg18UCSC Ensembl
Outerchr1:176301557..176315258hg17UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg386664
hg196664
hg186664
hg176664
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv3732
Supporting Variants
SamplesNA18555
Known GenesTDRD5
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)nssv2715
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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