A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1002033



Internal ID18744564
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:16643804..16721972hg38UCSC Ensembl
Innerchr1:16970299..17048467hg19UCSC Ensembl
Innerchr1:16842886..16921054hg18UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg3878169
hg1978169
hg1878169
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv72n100
Supporting Variantsnssv3465717, nssv3480430, nssv3475794, nssv3471927, nssv3482003
Samples
Known GenesESPNP, LOC729574, MIR3675, MST1P2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1002033
Frequency
Sample Size29084
Observed Gain4
Observed Loss1
Observed Complex0
Frequencyn/a


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