A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv626502



Internal ID15503349
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:237542604..237545324hg38UCSC Ensembl
Outerchr2:238451247..238453967hg19UCSC Ensembl
Outerchr2:238115986..238118706hg18UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg382721
hg192721
hg182721
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv511845
Supporting Variants
Samples1
Known GenesMLPH
MethodSequencing
AnalysisAnalysis of HGMDFN090 by Illumina Genome Analyzer mate pairs
PlatformNot reported
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nssv626502
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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