A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv269



Internal ID15383465
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:29065138..29078012hg38UCSC Ensembl
Outerchr5:29065245..29078119hg19UCSC Ensembl
Outerchr5:29101002..29113876hg18UCSC Ensembl
Outerchr5:29101002..29113876hg17UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg389192
hg199192
hg189192
hg179192
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv269
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)nssv269
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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