A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1001535



Internal ID18744066
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:52620368..53346539hg38UCSC Ensembl
Innerchr1:53086040..53812211hg19UCSC Ensembl
Innerchr1:52858628..53584799hg18UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg38726172
hg19726172
hg18726172
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3480862
Samples
Known GenesC1orf123, CPT2, ECHDC2, FAM159A, LOC100507564, LRP8, MAGOH, PODN, SCP2, SELRC1, SLC1A7, ZYG11A, ZYG11B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1001535
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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