A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv232



Internal ID15036739
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:25246527..25345647hg38UCSC Ensembl
Outerchr1:25573018..25672138hg19UCSC Ensembl
Outerchr1:25445605..25544725hg18UCSC Ensembl
Outerchr1:25318324..25417454hg17UCSC Ensembl
Cytoband1p36.11
Allele length
AssemblyAllele length
hg3899121
hg1999121
hg1899121
hg1799131
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv232
Supporting Variants
SamplesNA15510
Known GenesC1orf63, RHD, TMEM50A
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)nssv232
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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