A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1000043



Internal ID18742574
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:59539230..59580418hg38UCSC Ensembl
Innerchr1:60004902..60046090hg19UCSC Ensembl
Innerchr1:59777490..59818678hg18UCSC Ensembl
Cytoband1p32.1
Allele length
AssemblyAllele length
hg3841189
hg1941189
hg1841189
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv168n100
Supporting Variantsnssv3477999, nssv3701240, nssv3464071, nssv3470093, nssv3463039, nssv3464019, nssv3463837
Samples
Known GenesFGGY
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1000043
Frequency
Sample Size29084
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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