A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2788



Internal ID15200665
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:150782858..150828309hg38UCSC Ensembl
Outerchr1:150755334..150800785hg19UCSC Ensembl
Outerchr1:149021958..149067409hg18UCSC Ensembl
Outerchr1:147568407..147613858hg17UCSC Ensembl
Cytoband1q21.2
Allele length
AssemblyAllele length
hg3845452
hg1945452
hg1845452
hg1745452
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv7052
SamplesNA12156
Known GenesARNT, CTSK
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)nsv2788
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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