A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3962917



Internal ID19206133
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:57553384..57553464hg38UCSC Ensembl
Outerchr1:58019056..58019136hg19UCSC Ensembl
Cytoband1p32.2
Allele length
AssemblyAllele length
hg3881
hg1981
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1129461
Supporting Variants
SamplesKWS1
Known GenesDAB1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3962917
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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