A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1004807



Internal ID18747338
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:16544771..16721972hg38UCSC Ensembl
Innerchr1:16871266..17048467hg19UCSC Ensembl
Innerchr1:16743853..16921054hg18UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg38177202
hg19177202
hg18177202
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3463087, nssv3465078, nssv3478560, nssv3480143, nssv3475762, nssv3698841, nssv3465762, nssv3481898, nssv3471748, nssv3464998, nssv3470590, nssv3698840, nssv3470380, nssv3469188, nssv3472288, nssv3476359, nssv3476305, nssv3464100, nssv3474409, nssv3476612, nssv3478386, nssv3475171, nssv3473766, nssv3469069, nssv3482004, nssv3465243, nssv3477919, nssv3468826, nssv3466840, nssv3463008, nssv3465901, nssv3477768, nssv3471542, nssv3479470, nssv3474865, nssv3479728, nssv3466295, nssv3481280, nssv3463963, nssv3468750, nssv3480403
Samples
Known GenesCROCCP2, ESPNP, LOC729574, MIR3675, 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)nsv1004807
Frequency
Sample Size29084
Observed Gain39
Observed Loss2
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer