A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3994286



Internal ID18865805
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:154325324..154325724hg38UCSC Ensembl
Outerchr1:154297800..154298200hg19UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg38401
hg19401
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1142782
Supporting Variants
SamplesKWS1
Known GenesAQP10, ATP8B2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3994286
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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