A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv227



Internal ID15036733
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:168864813..168882855hg38UCSC Ensembl
Outerchr2:169721323..169739365hg19UCSC Ensembl
Outerchr2:169429569..169447611hg18UCSC Ensembl
Outerchr2:169546830..169564872hg17UCSC Ensembl
Cytoband2q24.3
Allele length
AssemblyAllele length
hg3818141
hg1918141
hg1818141
hg1718141
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv227
Supporting Variants
SamplesNA15510
Known GenesNOSTRIN, SPC25
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)nssv227
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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