A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3976779



Internal ID19224913
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:40247701..40247820hg38UCSC Ensembl
Outerchr12:40641503..40641622hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg38120
hg19120
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1124724
Supporting Variants
SamplesKWS1
Known GenesLRRK2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3976779
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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