A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3985295



Internal ID18863744
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:51797015..51797082hg38UCSC Ensembl
Outerchr1:52262687..52262754hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg3868
hg1968
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1126999
Supporting Variants
SamplesKWS1
Known GenesNRD1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3985295
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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