A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3978529



Internal ID19230000
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:7399381..7399454hg38UCSC Ensembl
Outerchr12:7551977..7552050hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg3874
hg1974
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1115967
Supporting Variants
SamplesKWS2
Known GenesCD163L1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3978529
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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