A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1011252



Internal ID19100469
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:49448439..49532179hg38UCSC Ensembl
Innerchr1:49914111..49997851hg19UCSC Ensembl
Innerchr1:49686698..49770438hg18UCSC Ensembl
Cytoband1p33
Allele length
AssemblyAllele length
hg3883741
hg1983741
hg1883741
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv163n100
Supporting Variantsnssv3700668, nssv3476497, nssv3700667, nssv3700666, nssv3477726, nssv3480607, nssv3464981, nssv3474591, nssv3472538
Samples
Known GenesAGBL4
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1011252
Frequency
Sample Size11257
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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