A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1006607



Internal ID18749138
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:16525007..16721972hg38UCSC Ensembl
Innerchr1:16851502..17048467hg19UCSC Ensembl
Innerchr1:16724089..16921054hg18UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg38196966
hg19196966
hg18196966
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv41n100
Supporting Variantsnssv3466254, nssv3480840, nssv3477900
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)nsv1006607
Frequency
Sample Size29084
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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