A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3381



Internal ID15191423
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:152209266..152233114hg38UCSC Ensembl
Outerchr1:152181742..152205590hg19UCSC Ensembl
Outerchr1:150448366..150472214hg18UCSC Ensembl
Outerchr1:148994815..149018663hg17UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg3812309
hg1912309
hg1812309
hg1712309
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2877
Supporting Variants
SamplesNA12878
Known GenesHRNR
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)nssv3381
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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