A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1008375



Internal ID18750906
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:112485649..112517599hg38UCSC Ensembl
Innerchr1:113028271..113060221hg19UCSC Ensembl
Innerchr1:112829794..112861744hg18UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg3831951
hg1931951
hg1831951
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3495932
Samples
Known GenesWNT2B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1008375
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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