A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv243



Internal ID15383725
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:34623939..34648990hg38UCSC Ensembl
Outerchr1:35089540..35114591hg19UCSC Ensembl
Outerchr1:34862127..34887178hg18UCSC Ensembl
Outerchr1:34758633..34783684hg17UCSC Ensembl
Cytoband1p34.3
Allele length
AssemblyAllele length
hg3825052
hg1925052
hg1825052
hg1725052
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv243
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)nsv243
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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