A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv76



Internal ID15037159
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:2250065..2262510hg38UCSC Ensembl
Outerchr12:2359231..2371676hg19UCSC Ensembl
Outerchr12:2229492..2241937hg18UCSC Ensembl
Outerchr12:2229492..2241937hg17UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg388520
hg198520
hg188520
hg178520
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv76
SamplesNA15510
Known GenesCACNA1C
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)nsv76
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer