A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv231



Internal ID15037035
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:47775571..47804097hg38UCSC Ensembl
Outerchr3:47817061..47845587hg19UCSC Ensembl
Outerchr3:47792065..47820591hg18UCSC Ensembl
Outerchr3:47792065..47820591hg17UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg389508
hg199508
hg189508
hg179508
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv231
SamplesNA15510
Known GenesDHX30, SMARCC1
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)nsv231
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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