A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv144



Internal ID15383327
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:35156425..35481425hg38UCSC Ensembl
Outerchr16:34390796..34715796hg19UCSC Ensembl
Outerchr16:34248297..34573297hg18UCSC Ensembl
Outerchr16:34248297..34573297hg17UCSC Ensembl
Cytoband16p11.1
Allele length
AssemblyAllele length
hg38325001
hg19325001
hg18325001
hg17325001
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv144
Supporting Variants
SamplesNA15510
Known GenesLOC146481, LOC283914, UBE2MP1
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)nssv144
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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