A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3989701



Internal ID18893278
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:160098510..160099110hg38UCSC Ensembl
Outerchr1:160068300..160068900hg19UCSC Ensembl
Cytoband1q23.2
Allele length
AssemblyAllele length
hg38601
hg19601
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1136097
Supporting Variants
SamplesKWS2
Known GenesIGSF8
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3989701
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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