A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1007507



Internal ID18750038
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:232377635..232429517hg38UCSC Ensembl
Innerchr2:233242345..233294227hg19UCSC Ensembl
Innerchr2:232950589..233002471hg18UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg3851883
hg1951883
hg1851883
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4187n100
Supporting Variantsnssv3586895
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)nsv1007507
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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