A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3977379



Internal ID19239375
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:94845855..94849755hg38UCSC Ensembl
Outerchr2:95511600..95515500hg19UCSC Ensembl
Cytoband2q11.1
Allele length
AssemblyAllele length
hg383901
hg193901
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1115570
Supporting Variants
SamplesKWS2
Known GenesANKRD20A8P
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3977379
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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