A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4799



Internal ID15549544
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:229663936..229695442hg38UCSC Ensembl
Outerchr1:229799683..229831189hg19UCSC Ensembl
Outerchr1:227866306..227897812hg18UCSC Ensembl
Outerchr1:226106418..226137924hg17UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg3831507
hg1931507
hg1831507
hg1731507
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3820, nssv585, nssv10510
SamplesNA12878, NA18956, NA19240
Known Genes
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)nsv4799
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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