A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3980663



Internal ID19221800
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:120897270..120913141hg38UCSC Ensembl
Outerchr1:147931500..147947900hg19UCSC Ensembl
Cytoband1q21.2
Allele length
AssemblyAllele length
hg3815872
hg1916401
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1143461
Supporting Variants
SamplesKWS1
Known GenesLINC01138, NBPF8
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3980663
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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