A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1444



Internal ID8512989
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:75157989..75191043hg38UCSC Ensembl
Outerchr1:75623674..75656728hg19UCSC Ensembl
Outerchr1:75396262..75429316hg18UCSC Ensembl
Outerchr1:75335695..75368749hg17UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg386386
hg196386
hg186386
hg176386
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv7244
SamplesNA12156
Known GenesLHX8
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)nsv1444
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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