A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3497877



Internal ID18738832
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:205367415..205435109hg38UCSC Ensembl
Innerchr1:205336543..205404237hg19UCSC Ensembl
Innerchr1:203603166..203670860hg18UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg3867695
hg1967695
hg1867695
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1014629
Supporting Variants
Samples
Known GenesBLACAT1, LEMD1, LEMD1-AS1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3497877
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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