A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1139512



Internal ID19270945
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:206385045..206408640hg38UCSC Ensembl
Outerchr1:206558400..206582000hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg3823596
hg1923601
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv256n106
Supporting Variantsnssv3977100
SamplesKWS2
Known GenesSRGAP2, SRGAP2B, SRGAP2C, SRGAP2D
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1139512
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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