A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1128812



Internal ID19257634
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:130580927..130610027hg38UCSC Ensembl
Outerchr2:131338500..131367600hg19UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg3829101
hg1929101
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2035n106
Supporting Variantsnssv3961480
SamplesKWS1
Known GenesCFC1, CFC1B, LOC646743, TISP43
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1128812
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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