A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1124699



Internal ID18927115
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:24307507..24307766hg38UCSC Ensembl
Outerchr12:24460441..24460700hg19UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg38260
hg19260
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv783n106
Supporting Variantsnssv3976754
SamplesKWS1
Known GenesSOX5
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1124699
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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