A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1007961



Internal ID18750492
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:16544771..16756084hg38UCSC Ensembl
Innerchr1:16871266..17082579hg19UCSC Ensembl
Innerchr1:16743853..16955166hg18UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg38211314
hg19211314
hg18211314
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv45n100
Supporting Variantsnssv3463624, nssv3471924, nssv3467983, nssv3474992, nssv3467902, nssv3465586, nssv3468573, nssv3480803, nssv3462923, nssv3478441, nssv3475455
Samples
Known GenesCROCCP2, ESPNP, LOC729574, MIR3675, MST1L, MST1P2, NBPF1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1007961
Frequency
Sample Size29084
Observed Gain11
Observed Loss0
Observed Complex0
Frequencyn/a


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