A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1128600



Internal ID19262095
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:121368039..121406340hg38UCSC Ensembl
Outerchr1:121109900..121148200hg19UCSC Ensembl
Cytoband1p11.2
Allele length
AssemblyAllele length
hg3838302
hg1938301
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv156n106
Supporting Variantsnssv3960511
SamplesKWS1
Known GenesSRGAP2-AS1, SRGAP2D
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1128600
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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