A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv165



Internal ID15383350
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:81412148..81437932hg38UCSC Ensembl
Outerchr17:79385948..79404958hg19UCSC Ensembl
Outerchr17:77000543..77019553hg18UCSC Ensembl
Outerchr17:77000543..77019553hg17UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg3810212
hg1910212
hg1810212
hg1710212
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv165
Supporting Variants
SamplesNA15510
Known GenesBAHCC1
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)nssv165
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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