A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1003633



Internal ID18746164
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:12792599..12954384hg38UCSC Ensembl
Innerchr1:12852748..13015495hg19UCSC Ensembl
Innerchr1:12775335..12938082hg18UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg38161786
hg19162748
hg18162748
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv28n100
Supporting Variantsnssv3480484, nssv3698008, nssv3468519, nssv3698010, nssv3470146, nssv3470750, nssv3469491, nssv3463138, nssv3473786, nssv3477186, nssv3478873, nssv3482687, nssv3476500, nssv3477722, nssv3466192, nssv3474837, nssv3472264, nssv3469997, nssv3482355, nssv3698009
Samples
Known GenesHNRNPCL1, LOC649330, PRAMEF1, PRAMEF10, PRAMEF11, PRAMEF2, PRAMEF4, PRAMEF6, PRAMEF7, PRAMEF8
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1003633
Frequency
Sample Size29084
Observed Gain5
Observed Loss15
Observed Complex0
Frequencyn/a


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