A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1126314



Internal ID19267100
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:25958367..25959067hg38UCSC Ensembl
Outerchr12:26111300..26112000hg19UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg38701
hg19701
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv784n106
Supporting Variantsnssv3984551
SamplesKWS1
Known GenesRASSF8, RASSF8-AS1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1126314
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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