A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3970560



Internal ID18890294
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:62249085..62249155hg38UCSC Ensembl
Outerchr1:62714757..62714827hg19UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg3871
hg1971
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1122353
Supporting Variants
SamplesKWS2
Known GenesKANK4
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3970560
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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