A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv265



Internal ID15383461
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:106831678..106862509hg38UCSC Ensembl
Outerchr1:107374300..107405131hg19UCSC Ensembl
Outerchr1:107175823..107206654hg18UCSC Ensembl
Outerchr1:107086342..107117173hg17UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg389152
hg199152
hg189152
hg179152
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv265
Supporting Variants
SamplesNA15510
Known Genes
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)nssv265
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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