A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6438803



Internal ID21096356
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:126485301..128649400hg38UCSC Ensembl
chr9:129247580..131411679hg19UCSC Ensembl
Cytoband9q33.3
Allele length
AssemblyAllele length
hg382164100
hg192164100
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18232121
Samples
Known GenesAK1, ANGPTL2, C9orf117, C9orf16, CDK9, CERCAM, CIZ1, COQ4, DNM1, DPM2, ENG, FAM102A, FAM129B, FPGS, GARNL3, GLE1, GOLGA2, LCN2, LMX1B, LOC100289019, LRSAM1, MIR199B, MIR219-2, MIR2861, MIR2964A, MIR3154, MIR3911, MIR3960, MIR4672, MVB12B, NAIF1, ODF2, PIP5KL1, PTGES2, PTGES2-AS1, PTRH1, RALGPS1, RPL12, SH2D3C, SLC25A25, SLC27A4, SLC2A8, SNORA65, SPTAN1, ST6GALNAC4, ST6GALNAC6, STXBP1, SWI5, TOR2A, TRUB2, TTC16, URM1, WDR34, ZBTB34, ZBTB43, ZNF79
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6438803
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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