A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1003512



Internal ID18746043
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:16855930..16909763hg38UCSC Ensembl
Innerchr1:17182425..17236258hg19UCSC Ensembl
Innerchr1:17055012..17108845hg18UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg3853834
hg1953834
hg1853834
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv109n100
Supporting Variantsnssv3474666, nssv3465117
Samples
Known GenesMIR3675
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1003512
Frequency
Sample Size29084
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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