A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1008973



Internal ID19098191
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:117492848..117526803hg38UCSC Ensembl
Innerchr1:118035470..118069425hg19UCSC Ensembl
Innerchr1:117836993..117870948hg18UCSC Ensembl
Cytoband1p12
Allele length
AssemblyAllele length
hg3833956
hg1933956
hg1833956
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv296n100
Supporting Variantsnssv3500384, nssv3496210, nssv3482990, nssv3501248, nssv3495901
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)nsv1008973
Frequency
Sample Size11257
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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