A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1115971



Internal ID18906394
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:123945915..123945989hg38UCSC Ensembl
Outerchr12:124430462..124430536hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg3875
hg1975
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3978533
SamplesKWS2
Known GenesCCDC92
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1115971
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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