A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3987305



Internal ID19218433
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:238532659..238551859hg38UCSC Ensembl
Outerchr2:239441300..239460500hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3819201
hg1919201
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1132523
Supporting Variants
SamplesKWS1
Known GenesLINC01107
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3987305
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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