A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv5065



Internal ID15196131
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:244962548..244994285hg38UCSC Ensembl
Outerchr1:245125850..245157587hg19UCSC Ensembl
Outerchr1:243192473..243224210hg18UCSC Ensembl
Outerchr1:241451891..241483628hg17UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg387520
hg197520
hg187520
hg177520
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5188
Supporting Variants
SamplesNA19129
Known GenesEFCAB2
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)nssv5065
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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