A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1145618



Internal ID18929316
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:99652022..99652080hg38UCSC Ensembl
Outerchr12:100045800..100045858hg19UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg3859
hg1959
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3983282
SamplesKWS1
Known GenesANKS1B
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1145618
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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