A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3997429



Internal ID19189904
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:121368038..121407540hg38UCSC Ensembl
Outerchr1:121109899..121149400hg19UCSC Ensembl
Cytoband1p11.2
Allele length
AssemblyAllele length
hg3839503
hg1939502
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1146068
Supporting Variants
SamplesKWB1
Known GenesSRGAP2-AS1, SRGAP2D
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv3997429
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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