A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1124603



Internal ID19284761
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:206309056..206377145hg38UCSC Ensembl
Outerchr1:206482400..206550500hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg3868090
hg1968101
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3976657
SamplesKWS2
Known GenesSRGAP2, SRGAP2B, SRGAP2C
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1124603
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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