A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1145471



Internal ID18921215
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:77471135..77471222hg38UCSC Ensembl
Outerchr10:79230893..79230980hg19UCSC Ensembl
Cytoband10q22.3
Allele length
AssemblyAllele length
hg3888
hg1988
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3982631
SamplesKWS1
Known GenesKCNMA1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1145471
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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