A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1136476



Internal ID18914079
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:227203249..227203305hg38UCSC Ensembl
Outerchr2:228067965..228068021hg19UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg3857
hg1957
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3972866
SamplesKWS2
Known GenesCOL4A3
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1136476
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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