A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1000770



Internal ID19089987
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:130011844..130177521hg38UCSC Ensembl
Innerchr3:129730687..129896364hg19UCSC Ensembl
Innerchr3:131213377..131379054hg18UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg38165678
hg19165678
hg18165678
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4861n100
Supporting Variantsnssv3736436, nssv3736439, nssv3736442, nssv3736441, nssv3736438, nssv3736437, nssv3736440
Samples
Known GenesALG1L2, FAM86HP
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1000770
Frequency
Sample Size11257
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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