A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1128623



Internal ID19279051
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:149681717..149689324hg38UCSC Ensembl
Outerchr1:149653300..149660900hg19UCSC Ensembl
Cytoband1q21.2
Allele length
AssemblyAllele length
hg387608
hg197601
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3960534
SamplesKWS1
Known GenesLINC00869
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1128623
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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