A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3970168



Internal ID18900429
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:44612772..44612827hg38UCSC Ensembl
Outerchr1:45078444..45078499hg19UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg3856
hg1956
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1122337
Supporting Variants
SamplesKWS2
Known GenesRNF220
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3970168
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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