A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv9125



Internal ID15188053
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:51902860..51919065hg38UCSC Ensembl
Outerchr1:52368532..52384737hg19UCSC Ensembl
Outerchr1:52141120..52157325hg18UCSC Ensembl
Outerchr1:52080553..52096758hg17UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg385728
hg195728
hg185728
hg175728
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv843
Supporting Variants
SamplesNA12156
Known GenesRAB3B
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)nssv9125
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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