A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3976653



Internal ID19227882
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:174377962..174384162hg38UCSC Ensembl
Outerchr1:174347100..174353300hg19UCSC Ensembl
Cytoband1q25.1
Allele length
AssemblyAllele length
hg386201
hg196201
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1124599
Supporting Variants
SamplesKWS2
Known GenesRABGAP1L
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3976653
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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