A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1001747



Internal ID19090964
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:210431390..210441937hg38UCSC Ensembl
Innerchr1:210604734..210615281hg19UCSC Ensembl
Innerchr1:208671357..208681904hg18UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg3810548
hg1910548
hg1810548
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3486295, nssv3494905, nssv3494155, nssv3483549, nssv3492380, nssv3499357, nssv3492386, nssv3500422, nssv3490955, nssv3487696
Samples
Known GenesHHAT
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1001747
Frequency
Sample Size11257
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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