A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1122337



Internal ID18913324
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 StatusM
Merged Variants
Supporting Variantsnssv3970168, nssv3982443
SamplesKWS1, KWS2
Known GenesRNF220
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1122337
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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