A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3956384



Internal ID19207732
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:227193998..227194053hg38UCSC Ensembl
Outerchr2:228058714..228058769hg19UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg3856
hg1956
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1127803
Supporting Variants
SamplesKWS1
Known GenesCOL4A3
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3956384
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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