A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1136144



Internal ID18921195
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:1085834..1090934hg38UCSC Ensembl
Outerchr12:1195000..1200100hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg385101
hg195101
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3989749, nssv3980893
SamplesKWS1, KWS2
Known GenesERC1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1136144
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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