A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3499148



Internal ID19086789
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:117441193..117517420hg38UCSC Ensembl
Innerchr1:117983815..118060042hg19UCSC Ensembl
Innerchr1:117785338..117861565hg18UCSC Ensembl
Cytoband1p12
Allele length
AssemblyAllele length
hg3876228
hg1976228
hg1876228
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1005179
Supporting Variants
Samples
Known GenesMAN1A2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3499148
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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