A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv626377



Internal ID15503224
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:237542870..237544953hg38UCSC Ensembl
Outerchr2:237540862..237545511hg38UCSC Ensembl
Innerchr2:238451513..238453596hg19UCSC Ensembl
Outerchr2:238449505..238454154hg19UCSC Ensembl
Innerchr2:238116252..238118335hg18UCSC Ensembl
Outerchr2:238114244..238118893hg18UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg384650
hg194650
hg184650
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv511184
Supporting Variants
Samples1
Known GenesMLPH
MethodSNP array
AnalysisAnalysis of HGMDFN090 by Illumina HumanOmni1 Quad SNP array
PlatformGPL8882
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nssv626377
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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