A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1143453



Internal ID19261537
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:148392061..148440599hg38UCSC Ensembl
Outerchr1:143676700..143725200hg19UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg3848539
hg1948501
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3980655
SamplesKWS1
Known GenesLINC00875, LINC01138, LOC100130000
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1143453
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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