A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv90



Internal ID15383564
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:155266014..155271888hg38UCSC Ensembl
Outerchr1:155235805..155241679hg19UCSC Ensembl
Outerchr1:153502429..153508303hg18UCSC Ensembl
Outerchr1:152048878..152054752hg17UCSC Ensembl
Cytoband1q22
Allele length
AssemblyAllele length
hg3831576
hg1931576
hg1831576
hg1731576
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv90
Supporting Variants
SamplesNA15510
Known GenesCLK2
MethodSequencing
AnalysisFosmids were categorized as discordant if the in silico size was in excess of three standard deviations from the mean (<32 or 48> kb) and/or showed incorrect orientation of ends
PlatformCapillary
Comments
ReferenceTuzun_et_al_2005
Pubmed ID15895083
Accession Number(s)nssv90
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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