A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1006772



Internal ID18749303
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:232346988..232438231hg38UCSC Ensembl
Innerchr2:233211698..233302941hg19UCSC Ensembl
Innerchr2:232919942..233011185hg18UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg3891244
hg1991244
hg1891244
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4184n100
Supporting Variantsnssv3586877, nssv3586876
Samples
Known GenesALPP, ALPPL2, ECEL1P2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1006772
Frequency
Sample Size29084
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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