A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4320



Internal ID15192361
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:74729952..74732608hg38UCSC Ensembl
Outerchr1:75195636..75198292hg19UCSC Ensembl
Outerchr1:74968224..74970880hg18UCSC Ensembl
Outerchr1:74907657..74910313hg17UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg384857
hg194857
hg184857
hg174857
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1422
Supporting Variants
SamplesNA12878
Known GenesCRYZ
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)nssv4320
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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