A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv522840



Internal ID15103447
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:150961247..151375270hg38UCSC Ensembl
Innerchr1:150933723..151347746hg19UCSC Ensembl
Innerchr1:149200347..149614370hg18UCSC Ensembl
Innerchr1:147746796..148160819hg17UCSC Ensembl
Cytoband1q21.2
Allele length
AssemblyAllele length
hg38414024
hg19414024
hg18414024
hg17414024
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv698492
Samples
Known GenesANXA9, BNIPL, C1orf56, CDC42SE1, CERS2, FAM63A, GABPB2, LYSMD1, MLLT11, PI4KB, PIP5K1A, PRUNE, PSMD4, RFX5, SCNM1, SELENBP1, SEMA6C, SETDB1, TMOD4, TNFAIP8L2, TNFAIP8L2-SCNM1, VPS72, ZNF687
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv522840
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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